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rs121907976(A;G)

From SNPedia
(Redirected from I5004846(C;T))
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907976
GeneHEXA
Chromosome15
Position72,351,194
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;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.