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rs28940871(G;G)

From SNPedia

23andMe = Tay-Sachs disease likely, but on other platforms this may be the normal form
Is agenotype
ofrs28940871
GeneHEXA
Chromosome15
Position72,346,305
mentionedby
Magnitude5
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Tay-Sachs carrier
(G;G) 5 23andMe = Tay-Sachs disease likely, but on other platforms this may be the normal form

This position is an ambiguous flip which seems to have been flipped between b36 and b37. 23andMe users who see GG at the 23andMe site, are normal. However using more recent dbSNP based data, (G;G) is the risk genotype. Tay-Sachs disease likely; see details