View Full Version : rs3762271 (G; T) variant?

09-29-2017, 04:08 PM
The raw data I downloaded says I have GT alleles for rs3762271, but only C and A alleles are supposed to exist. Does it mean there was a mistake, or that I carry two previously unrecorded ASPM alleles?

09-29-2017, 04:18 PM
G and T are the corresponding base pairs to C and A on the opposite strand of your DNA.
On snpedia, rs3762271 is given in minus-orientation while your DNA company tested the plus-oriented strand of your DNA.
So your genotype is C;A.


09-29-2017, 04:28 PM
But the nearby rs964201 came out as GG, which is the expected orientation. Does it happen on a SNP basis?

09-29-2017, 04:38 PM
rs964201 is in plus-orientation, so it is the same as in your plus-oriented raw data.
The orientation of nearby snp's doesn't have to be the same.

07-12-2018, 05:38 PM
I have this one rs3762271(C;C)
common in clinvar
rs3762271 is an A/C SNP located in the ASPM gene. The A-allele of this SNP as well as the G-allele of rs964201 another SNP located in the ASPM gene and rs2442496 a SNP in the MCPH1 gene arose approximately 50,000 years ago and show strong positive selection in the lineage leading to humans. A comment is provided by g2b2mh.
more info
Maybe a mistake ?