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i4000440(A;G)

From SNPedia

likely to lead to a false positive blood test for Tay-Sachs Disease
is agenotype
ofI4000440
mentionedby
Magnitude2
ReputeBad
Geno 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

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 this genotype 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.