PDA

View Full Version : The color of the eyes: at least 17 HERC2 variants in Human gene pool



Palisto
07-03-2013, 05:49 PM
I analyzed the HERC2 SNP data and discovered 17 haplotypes of HERC2, two of them cause light eye colors.

http://kurdishdna.blogspot.com/2013/07/the-color-of-eyes-at-least-17-herc2.html

https://docs.google.com/spreadsheet/ccc?key=0AgVZU9mN1R6ldHFQTjJmWlJ0cnBiRng2ZERDVUJZd Xc#gid=0

Post your results for these SNPs and I can tell you what haplotypes you belong to:

Gene Position SNP Variants

HERC2 28365618 rs12913832 A or G
HERC2 28365733 rs7183877 A or C
HERC2 28368969 rs11635884 C or T
HERC2 28386626 rs11636232 C or T
HERC2 28412447 rs8043281 A or G
HERC2 28422026 rs6497284 C or T
HERC2 28488888 rs8028689 C or T
HERC2 28506450 rs9302376 C or T
HERC2 28509839 rs16950960 A or G
HERC2 28516084 rs8039195 C or T
HERC2 28526228 rs16950987 A or G
HERC2 28530182 rs1667394 C or T

MJost
07-03-2013, 07:01 PM
HERC2 28365618 rs12913832 GG <<Blue but I have Hazel
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CC
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 GG


rs3768056 GG
rs9782955 TT

MJost

Palisto
07-03-2013, 08:12 PM
HERC2 28365618 rs12913832 GG <<Blue but I have Hazel
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CC
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 GG


rs3768056 GG
rs9782955 TT

MJost

This is why I wrote "light eye color" and not blue.

You have haplotype1 (ht1) twice. Are sure you have "HERC2 28530182 rs1667394 GG "???

DMXX
07-03-2013, 08:31 PM
Very pleased to see more enterprises concerning human eye colour variation. Thanks for posting this, Palisto. Please view my genotypes in the box below.



AA
AC
TT
CC
GG
TT
CT
CC
AA
CC
AG
CC

Palisto
07-03-2013, 08:34 PM
Very pleased to see more enterprises concerning human eye colour variation. Thanks for posting this, Palisto. Please view my genotypes in the box below.



AA
AC
TT
CC
GG
TT
CT
CC
AA
CC
AG
CC


Thanks, DMXX
You have ht5 and ht6.

DMXX
07-03-2013, 09:19 PM
Thanks, DMXX
You have ht5 and ht6.

I had a look at the spreadsheet on your blog, but from your own inferences, what is the significance of this (if any)? Both seem to be dark-eyed West Eurasian haplotypes.

Calamus
07-03-2013, 09:22 PM
Mine is similar to Mjost:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

Palisto
07-03-2013, 09:44 PM
Mine is similar to Mjost:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

You have one ht1 and one undiscovered haplotype that is derived from ht1 but has HERC2 28368969 rs11635884 C instead of T. This is exciting, I have never seen that combination of HERC2 SNP results.

Palisto
07-03-2013, 10:20 PM
I had a look at the spreadsheet on your blog, but from your own inferences, what is the significance of this (if any)? Both seem to be dark-eyed West Eurasian haplotypes.

See it this way. Before I made this list people tend to predict eye colors based on single SNPs with low accuracy. My approach is to look at long pieces of DNA, not just single SNPs. I realized that most SNP combination do not exist. For 12 SNPs you could have 2^12=4096 combinations but I only found 18 combinations (19 with Calamus data). In Europe almost all SNP data can be explained with only 6 haplotypes. I can see whole genes with 23andme data. The piece I am looking at goes from 28365618 to 28530182 long, it is 164564 bases long.

Example: without having seen the data of your parents I can already say that you inherited the combination of rs7183877=C, rs8028689=C, rs16950987=A (ht6) from one parental side, and the combination of rs7183877=A, rs8028689=T, rs16950987=G (ht5) from the other parental side.

MJost
07-03-2013, 10:58 PM
This is why I wrote "light eye color" and not blue.

You have haplotype1 (ht1) twice. Are sure you have "HERC2 28530182 rs1667394 GG "???

Yep that is correct. I have six other half maternal siblings and they all have

My maternal GGuncle (maternal GGgrandmother's son had Gary eyes)

rs12913832 15 26039213

GG TF
GG CJost
GG DJost
GG JJost
GG KS sister
GG TH sister

MJost

Palisto
07-04-2013, 12:26 AM
Yep that is correct. I have six other half maternal siblings and they all have

My maternal GGuncle (maternal GGgrandmother's son had Gary eyes)

rs12913832 15 26039213

GG TF
GG CJost
GG DJost
GG JJost
GG KS sister
GG TH sister

MJost

No, I mean 28530182 rs1667394, not rs12913832 26039213. In your first post you wrote that you are "GG" for 28530182 rs1667394 but I have never seen any G for rs1667394, only C or T.

https://www.23andme.com/you/explorer/snp/?snp_name=rs1667394

MJost
07-04-2013, 01:24 AM
No, I mean 28530182 rs1667394, not rs12913832 26039213. In your first post you wrote that you are "GG" for 28530182 rs1667394 but I have never seen any G for rs1667394, only C or T.

https://www.23andme.com/you/explorer/snp/?snp_name=rs1667394

whoops. Dang typo woollie fuz..... and speed reading....

TT for rs1667394

for all my siblings too.

MJost
07-04-2013, 01:29 AM
So I have Hazel but suppose to a light eye color or according to the chart?

Light eye color
#01
G
C
T
C
G
T
T
C
A
T
G
T

MJost

Palisto
07-04-2013, 04:03 AM
TT for rs1667394

for all my siblings too.
...
So I have Hazel but suppose to a light eye color or according to the chart?

Light eye color
#01
G
C
T
C
G
T
T
C
A
T
G
T

MJost

TT for rs1667394 makes more sense.
Well yes, hazel eyes are lighter than standard brown/black eyes. You have ht1 twice.

All blue eyed people have HERC2 ht1 or h2 (or the newly discovered haplotype of Calamus), but not all HERC2 ht1/2 individuals have blue eyes.

There are many more genes involved in eye coloring but HERC2 seems to be the most important.

soulblighter
07-04-2013, 05:01 AM
Mom

AA
AC
TT
CC
GG
TT
TT
CC
AA
CT
GG
CT


Me

AA
AA
TT
CC
GG
TT
TT
CC
AA
CC
GG
CC

Palisto
07-04-2013, 05:30 AM
Mom

AA
AC
TT
CC
GG
TT
TT
CC
AA
CT
GG
CT


Me

AA
AA
TT
CC
GG
TT
TT
CC
AA
CC
GG
CC


Your Mom: ht3 and ht5
You: ht5 twice

ilmari
07-04-2013, 05:50 AM
FWIW, here are my results:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 TT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

Not sure why these are separated in MJost's post, but here:
rs3768056 AG
rs9782955 CT

My mother's results are identical to mine.

Palisto
07-04-2013, 07:32 AM
FWIW, here are my results:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 TT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

Not sure why these are separated in MJost's post, but here:
rs3768056 AG
rs9782955 CT

My mother's results are identical to mine.

You have ht2 twice. Your mom, too.

MJost
07-04-2013, 02:23 PM
Not sure why these are separated in MJost's post, but here:
rs3768056 AG
rs9782955 CT

My mother's results are identical to mine.

Over on 23andme there is a thread https://www.23andme.com/you/community/thread/3280/
that discusses the Dutch Eye Hue Study

http://www.sciencedaily.com/releases/2010/05/100506172731.htm
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000934

I just thought it was interesting and didnt know if Paisto caught it.

MJost

DMXX
07-05-2013, 04:03 PM
There are many more genes involved in eye coloring but HERC2 seems to be the most important.

You'll have to include OCA2 there; several recent papers have shown strong linkage disequilibrium between OCA2 haplotypes specifically in Europe leads to the commonness of blue eyes.

One can also include MC1R in a statement concerning the "importance" of a particular gene, particularly in a European context (MC1R mutations aren't as common elsewhere).

Private_user
07-06-2013, 03:53 PM
I analyzed the HERC2 SNP data and discovered 17 haplotypes of HERC2, two of them cause light eye colors.

http://kurdishdna.blogspot.com/2013/07/the-color-of-eyes-at-least-17-herc2.html

https://docs.google.com/spreadsheet/ccc?key=0AgVZU9mN1R6ldHFQTjJmWlJ0cnBiRng2ZERDVUJZd Xc#gid=0

Post your results for these SNPs and I can tell you what haplotypes you belong to:Mine is:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CC
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

In reality my eyes are some muddy shade of gray (blueish gray with a yellowish splash around the pupil). All of my paternal grandfather's SNPs are exactly the same as mine, however, his eyes are sky blue with no yellow at all.

The haplotype appears to be the same as MJost's:
You have haplotype1 (ht1) twice. Are sure you have "HERC2 28530182 rs1667394 GG "???



My mother (her eyes are the same muddy shade of gray as mine), my maternal grandfather (bright blue eyes) and my maternal grandmother's brother (blue eyes) all appear to have the exact same haplotypes as Calamus (one ht1 + the mysterious one) - not so rare after all:
You have one ht1 and one undiscovered haplotype that is derived from ht1 but has HERC2 28368969 rs11635884 C instead of T. This is exciting, I have never seen that combination of HERC2 SNP results.


Now my paternal grandmother's results seem more interesting (her eyes are hazel). At 23andme the spot where HERC2 is located was painted as half Northern European/half Eastern European for her, at World 22 analysis (http://magnusducatus.blogspot.com/2012/09/paint-me-rainbow-painting-world-22.html) from Magnus Ducatus project it was painted as fully North-East European, at Eurogenes IBD run (http://bga101.blogspot.com/2012/07/pinpointing-loci-specific-genomic.html) it was half Spanish/half East English. There's not a single haplotype which could suit her in your spreadsheet as she's homozygous for rs16950987 (G), rs7183877 (C) which leaves only #1, #2, #3, #4, #7 & #10 possible but has one C at rs8028689, so none of them fit:

HERC2 28365618 rs12913832 AG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 CT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 CT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 CT


BTW we're all from Lithuania.

MJost
07-08-2013, 12:41 PM
ok, This is the color of my eyes.

MJost

Palisto
07-08-2013, 05:07 PM
Mine is:

HERC2 28365618 rs12913832 GG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CC
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

In reality my eyes are some muddy shade of gray (blueish gray with a yellowish splash around the pupil). All of my paternal grandfather's SNPs are exactly the same as mine, however, his eyes are sky blue with no yellow at all.

The haplotype appears to be the same as MJost's:



My mother (her eyes are the same muddy shade of gray as mine), my maternal grandfather (bright blue eyes) and my maternal grandmother's brother (blue eyes) all appear to have the exact same haplotypes as Calamus (one ht1 + the mysterious one) - not so rare after all:


Now my paternal grandmother's results seem more interesting (her eyes are hazel). At 23andme the spot where HERC2 is located was painted as half Northern European/half Eastern European for her, at World 22 analysis (http://magnusducatus.blogspot.com/2012/09/paint-me-rainbow-painting-world-22.html) from Magnus Ducatus project it was painted as fully North-East European, at Eurogenes IBD run (http://bga101.blogspot.com/2012/07/pinpointing-loci-specific-genomic.html) it was half Spanish/half East English. There's not a single haplotype which could suit her in your spreadsheet as she's homozygous for rs16950987 (G), rs7183877 (C) which leaves only #1, #2, #3, #4, #7 & #10 possible but has one C at rs8028689, so none of them fit:

HERC2 28365618 rs12913832 AG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 TT
HERC2 28488888 rs8028689 CT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 CT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 CT


BTW we're all from Lithuania.

Your paternal grandmother is interesting. It could be ht2 + a new ht. In order to find out what the two HERC2 segments are you need data of direct relatives. I assume in 23andme you are not sharing the HERC2 gene with your paternal grandmother.
https://www.23andme.com/you/inheritance/
Do you have any relative data that is sharing the HERC2 gene region with your paternal grandmother? Your father?

AJL
07-09-2013, 03:34 AM
Mine:

HERC2 28365618 rs12913832 AG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 GG
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

Hazel (mainly grey/brown with a little green) eyes.

Palisto
07-09-2013, 05:04 AM
Mine:

HERC2 28365618 rs12913832 AG
HERC2 28365733 rs7183877 CC
HERC2 28368969 rs11635884 TT
HERC2 28386626 rs11636232 CT
HERC2 28412447 rs8043281 GG
HERC2 28422026 rs6497284 GG
HERC2 28488888 rs8028689 TT
HERC2 28506450 rs9302376 CC
HERC2 28509839 rs16950960 AA
HERC2 28516084 rs8039195 TT
HERC2 28526228 rs16950987 GG
HERC2 28530182 rs1667394 TT

Hazel (mainly grey/brown with a little green) eyes.

You have ht2 and ht3.

Private_user
07-10-2013, 07:10 AM
Your paternal grandmother is interesting. It could be ht2 + a new ht. In order to find out what the two HERC2 segments are you need data of direct relatives. I assume in 23andme you are not sharing the HERC2 gene with your paternal grandmother.
https://www.23andme.com/you/inheritance/
Do you have any relative data that is sharing the HERC2 gene region with your paternal grandmother? Your father?My father hasn't tested yet, so I guess it will have to stay a mystery for the time being. Your assumption is correct, I inherited my pigmentation genes from my grandfather on the paternal side.
Ht2 + a new derivation of ht6 or ht10 (each of them differs from my grandma's haplotype by only one letter) would make sense - grandmother's mother was blue eyed, so one of her halves has to be either ht1 or ht2.

Out of the 10 Lithuanian samples at Behar, one (http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSM536635) also happens to be dark eyed (I cannot know for certain but he has AG at rs12913832, so his eyes are most likely hazel like my grandmother's). I went on to check out his HERC2 - it's ht2 + ht6.

J Man
07-10-2013, 06:41 PM
My results for these SNPs from my 23andme results. What is my haplotype exactly?

rs12913832: AG
rs7183877: AC
rs11635884: TT
rs11636232: CT
rs8043281: GG
rs6497284: TT
rs8028689: TT
rs9302376: CC
rs16950960: AA
rs8039195: CT
rs16950987: GG
rs1667394: CT

Clinton P
07-10-2013, 08:06 PM
Here are my values for these SNPs from my 23andMe results....



GG HERC2 28365618 rs12913832 A or G
CC HERC2 28365733 rs7183877 A or C
TT HERC2 28368969 rs11635884 C or T
CT HERC2 28386626 rs11636232 C or T
GG HERC2 28412447 rs8043281 A or G
TT HERC2 28422026 rs6497284 C or T
TT HERC2 28488888 rs8028689 C or T
CC HERC2 28506450 rs9302376 C or T
AA HERC2 28509839 rs16950960 A or G
TT HERC2 28516084 rs8039195 C or T
GG HERC2 28526228 rs16950987 A or G
TT HERC2 28530182 rs1667394 C or T

Clinton P

J Man
07-11-2013, 08:02 PM
Any idea about my results yet?

Private_user
07-11-2013, 08:25 PM
C'mon, he posted a link to the spreadsheet where all the haplotypes are listed in the OP :P


https://docs.google.com/spreadsheet/ccc?key=0AgVZU9mN1R6ldHFQTjJmWlJ0cnBiRng2ZERDVUJZd Xc#gid=0

Yours is ht2 + ht5, Clinton's is ht2 + ht1.

J Man
07-11-2013, 09:28 PM
C'mon, he posted a link to the spreadsheet where all the haplotypes are listed in the OP :P



Yours is ht2 + ht5, Clinton's is ht2 + ht1.

I thought that I had those haplotypes but I just wanted to see what other's thought. Thanks linkus. :P

basque
07-14-2013, 09:18 PM
My values from 23&me

AG 12913832
CC 7183877
TT 11635884
CT 11636232
GG 8043281
TT 6497284
TT 8028689
CC 9302376
AA 16950960
TT 8039195
GG 16950987
CT 1667394

Light brown eyes

basque :rolleyes:

Palisto
07-16-2013, 05:31 AM
My values from 23&me

AG 12913832
CC 7183877
TT 11635884
CT 11636232
GG 8043281
TT 6497284
TT 8028689
CC 9302376
AA 16950960
TT 8039195
GG 16950987
CT 1667394

Light brown eyes

basque :rolleyes:

You have ht2 and ht4.

Rathna
07-16-2013, 07:42 AM
Gene Position SNP Versions Genotypes
HERC2 28356349 rs4778244 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28356496 rs7496685 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28356859 rs1129038 C or T
CT
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CT
Monica De Conti
CC
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28357230 rs4778245 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28359258 rs12593929 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28365618 rs12913832 A or G
AG
Francesca Guarino
AA
Gioiello Tognoni
AA
Giorgio Tognarelli
AG
Monica De Conti
AA
Silvana Vagelli
AG
Velthur Tognoni
HERC2 28365733 rs7183877 A or C
CC
Francesca Guarino
AC
Gioiello Tognoni
AC
Giorgio Tognarelli
CC
Monica De Conti
AC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28367351 rs11074321 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28368969 rs11635884 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28374012 rs3935591 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
CC
Monica De Conti
CT
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28384261 rs6497282 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28386626 rs11636232 C or T
CC
Francesca Guarino
CC
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28394226 rs34261044 A or G
GG
Francesca Guarino
not genotyped
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28412447 rs8043281 A or G
GG
Francesca Guarino
GG
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28422026 rs6497284 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28440287 rs6497287 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28488888 rs8028689 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28494032 rs2240204 A or G
not genotyped
Francesca Guarino
GG
Gioiello Tognoni
not genotyped
Giorgio Tognarelli
not genotyped
Monica De Conti
not genotyped
Silvana Vagelli
not genotyped
Velthur Tognoni
HERC2 28494202 rs2240203 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28504669 rs10152818 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28506450 rs9302376 C or T
CC
Francesca Guarino
CC
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28507100 rs7178333 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28509839 rs16950960 A or G
AA
Francesca Guarino
AA
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28513364 rs916977 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
CC
Monica De Conti
CT
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28516084 rs8039195 C or T
TT
Francesca Guarino
CT
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28520506 rs16950979 A or G
not genotyped
Francesca Guarino
AA
Gioiello Tognoni
not genotyped
Giorgio Tognarelli
not genotyped
Monica De Conti
not genotyped
Silvana Vagelli
not genotyped
Velthur Tognoni
HERC2 28526228 rs16950987 A or G
GG
Francesca Guarino
GG
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28530182 rs1667394 C or T
TT
Francesca Guarino
CC
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28532120 rs16950993 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28544359 rs1667400 A or C
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni

Palisto
07-16-2013, 09:17 AM
Gene Position SNP Versions Genotypes
HERC2 28356349 rs4778244 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28356496 rs7496685 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28356859 rs1129038 C or T
CT
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CT
Monica De Conti
CC
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28357230 rs4778245 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28359258 rs12593929 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28365618 rs12913832 A or G
AG
Francesca Guarino
AA
Gioiello Tognoni
AA
Giorgio Tognarelli
AG
Monica De Conti
AA
Silvana Vagelli
AG
Velthur Tognoni
HERC2 28365733 rs7183877 A or C
CC
Francesca Guarino
AC
Gioiello Tognoni
AC
Giorgio Tognarelli
CC
Monica De Conti
AC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28367351 rs11074321 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28368969 rs11635884 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28374012 rs3935591 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
CC
Monica De Conti
CT
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28384261 rs6497282 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28386626 rs11636232 C or T
CC
Francesca Guarino
CC
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28394226 rs34261044 A or G
GG
Francesca Guarino
not genotyped
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28412447 rs8043281 A or G
GG
Francesca Guarino
GG
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28422026 rs6497284 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28440287 rs6497287 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28488888 rs8028689 C or T
TT
Francesca Guarino
TT
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28494032 rs2240204 A or G
not genotyped
Francesca Guarino
GG
Gioiello Tognoni
not genotyped
Giorgio Tognarelli
not genotyped
Monica De Conti
not genotyped
Silvana Vagelli
not genotyped
Velthur Tognoni
HERC2 28494202 rs2240203 C or T
TT
Francesca Guarino
not genotyped
Gioiello Tognoni
TT
Giorgio Tognarelli
TT
Monica De Conti
TT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28504669 rs10152818 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28506450 rs9302376 C or T
CC
Francesca Guarino
CC
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28507100 rs7178333 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni
HERC2 28509839 rs16950960 A or G
AA
Francesca Guarino
AA
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28513364 rs916977 C or T
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CT
Giorgio Tognarelli
CC
Monica De Conti
CT
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28516084 rs8039195 C or T
TT
Francesca Guarino
CT
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
TT
Velthur Tognoni
HERC2 28520506 rs16950979 A or G
not genotyped
Francesca Guarino
AA
Gioiello Tognoni
not genotyped
Giorgio Tognarelli
not genotyped
Monica De Conti
not genotyped
Silvana Vagelli
not genotyped
Velthur Tognoni
HERC2 28526228 rs16950987 A or G
GG
Francesca Guarino
GG
Gioiello Tognoni
GG
Giorgio Tognarelli
GG
Monica De Conti
GG
Silvana Vagelli
GG
Velthur Tognoni
HERC2 28530182 rs1667394 C or T
TT
Francesca Guarino
CC
Gioiello Tognoni
CT
Giorgio Tognarelli
TT
Monica De Conti
CT
Silvana Vagelli
CT
Velthur Tognoni
HERC2 28532120 rs16950993 A or G
AA
Francesca Guarino
not genotyped
Gioiello Tognoni
AA
Giorgio Tognarelli
AA
Monica De Conti
AA
Silvana Vagelli
AA
Velthur Tognoni
HERC2 28544359 rs1667400 A or C
CC
Francesca Guarino
not genotyped
Gioiello Tognoni
CC
Giorgio Tognarelli
CC
Monica De Conti
CC
Silvana Vagelli
CC
Velthur Tognoni

Very diverse

Francesca Guarino: ht1, ht3
Gioiello Tognoni: ht4, ht5
Giorgio Tognarelli: ht3, ht5
Monica De Conti: ht1, ht3
Silvana Vagelli: ht3, ht5
Velthur Tognoni: ht1, ht4

Rathna
07-16-2013, 10:07 AM
Many thanks, Palisto. Perhaps it is useful to know our relatedness:

Silvana Vagelli is the mother of Gioiello Tognoni (100% Tuscan)
Gioiello Tognoni (100% Tuscan)
Francesca Guarino (100% Sicilian)
Velthur Tognoni, son of Gioiello Tognoni and Francesca Guarino (50% Tuscan, 50% Sicilian)
Monica De Conti, 1st cousin of Gioiello Tognon (50% Tuscan, 50% Venetian)
Giorgio Tognarelli, acquired cousin of Gioiello Tognoni (100% Tuscan)

Palisto
07-16-2013, 01:56 PM
Many thanks, Palisto. Perhaps it is useful to know our relatedness:

Silvana Vagelli is the mother of Gioiello Tognoni (100% Tuscan)
Gioiello Tognoni (100% Tuscan)
Francesca Guarino (100% Sicilian)
Velthur Tognoni, son of Gioiello Tognoni and Francesca Guarino (50% Tuscan, 50% Sicilian)
Monica De Conti, 1st cousin of Gioiello Tognon (50% Tuscan, 50% Venetian)
Giorgio Tognarelli, acquired cousin of Gioiello Tognoni (100% Tuscan)

I added the haplotypes to your comment.

Silvana Vagelli ( ht3, ht5) is the mother of Gioiello Tognoni (ht4, ht5)
Gioiello Tognoni (ht4, ht5) got ht5 from mother and ht4 from father.
Francesca Guarino (ht1, ht3)
Velthur Tognoni (ht1, ht4), son of Gioiello Tognoni (ht4, ht5) and Francesca Guarino (ht1, ht3) got ht4 from father and ht1 from mother.
Monica De Conti (ht1, ht3), 1st cousin of Gioiello Tognon (ht4, ht5) and is not sharing HERC2 gene with 1st cousin.
Giorgio Tognarelli (ht3, ht5), acquired cousin of Gioiello Tognoni (ht4, ht5) is sharing ht5 with his cousin, so he could be related via Giorgio's mother Silvana Vagelli (ht3, ht5).

Rathna
07-16-2013, 03:12 PM
That's all right, Palisto, only

Giorgio Tognarelli (ht3, ht5), acquired cousin of Gioiello Tognoni (ht4, ht5) is sharing ht5 with his cousin, so he could be related via Giorgio's [Gioiello's?] mother Silvana Vagelli (ht3, ht5)

is the husband of another cousin of mine, not tested, and I think that by chance he coincides with my mother, only for being both of the Tuscan gene pool, because, even though he, by chance, is of the same my Y (R-L23+, but different haplotype), he is linked with me in a little segment by my paternal line (and has two segment in common with my cousin Monica) and has nothing in common with my mother.