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i4000442

From SNPedia

23andMe dataI4000442
23andMe searchI4000442
opensnpI4000442
Gene (via rs)HEXA
GeneHEXA
Chromosome15
Position72642925
iGeno Mag Summary
(A;A) 2 likely to lead to a false positive blood test for Tay Sachs
(A;G) 2 likely to lead to a false positive blood test for Tay Sachs
(G;G) 0 normal

aliasrs121907970
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(C;C) 0 common in clinvar

This SNP is associated with a change in the protein encoded by the HEXA gene, which leads to a false positive blood test for Tay-Sachs Disease. In other words, the blood test from an individual with an i4000442(A) allele will indicate the person is a carrier for Tay Sachs disease, even though this SNP is not actually one that leads to the disease. Note however that the person may still carry (on their other chromosome 15) a "true" Tay Sachs causing allele.

rs121907970