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rs121907973(A;C)

From SNPedia
(Redirected from I5004843(G;T))
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907973
GeneHEXA
Chromosome15
Position72,351,215
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a Tay-Sachs mutation
(C;C) 8.8 Tay-Sachs disease (predicted)

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