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rs387906309(-;TATC)

From SNPedia
(Redirected from I4000391(D;I))
Carrier for a Tay-Sachs mutation
Is agenotype
ofrs387906309
GeneHEXA
Chromosome15
Position72,346,579
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TATC) 3 Carrier for a Tay-Sachs mutation
(TATC;TATC) 8.8 Tay-Sachs disease (predicted)

Unaffected in absence of a second HEXA gene mutation; see discussion at rs387906309 and at Tay-Sachs disease