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rs121907978(A;G)

From SNPedia
(Redirected from I5004848(C;T))
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907978
GeneHEXA
Chromosome15
Position72,346,296
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier of a Tay-Sachs mutation
(C;C) 8.8 Tay-Sachs disease (predicted)
(C;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar

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