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rs121907954(A;G)

From SNPedia
(Redirected from I4000436(C;T))
Carrier for a Tay-Sachs mutation
Is agenotype
ofrs121907954
GeneHEXA
Chromosome15
Position72,350,518
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier for a Tay-Sachs mutation
(C;C) 2 If from Ancestry, this is a miscall and you are normal for this SNP; if from another company, please contact us.
(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