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i4000440

From SNPedia

23andMe dataI4000440
23andMe searchI4000440
opensnpI4000440
Gene (via rs)HEXA
GeneHEXA
Chromosome15
Position72642919
iGeno Mag Summary
(A;A) 2 likely to lead to a false positive blood test for Tay Sachs disease
(A;G) 2 likely to lead to a false positive blood test for Tay-Sachs Disease
(G;G) 0 normal

aliasrs138058578
Rs_StabilizedOrientationplus
RsGeno 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 common/normal

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 i4000440(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.

rs138058578