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rs76173977(C;T)

From SNPedia
(Redirected from I4000438(C;T))
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs76173977
GeneHEXA
Chromosome15
Position72,348,047
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 8.8 Tay-Sachs disease

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