rs28940871(G;G)

23andMe = Tay-Sachs disease likely, but on other platforms this may be the normal form

Is a	genotype
of	rs28940871
Gene	HEXA
Chromosome	15
Position	72,346,305
mentioned	by

Magnitude

5

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a Tay-Sachs mutation
(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