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rs121907974(C;T)

From SNPedia
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907974
GeneHEXA
Chromosome15
Position72,351,173
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8.8 Tay-Sachs disease (predicted)
(C;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 0 common in clinvar

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