Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907969(C;G)

From SNPedia
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907969
GeneHEXA
Chromosome15
Position72,353,098
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 8.8 Tay-Sachs disease (predicted)

Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.