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rs121907960(-;TTC)

From SNPedia
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs121907960
GeneHEXA
Chromosome15
Position72,349,153
Merged fromRs778155650
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8.8 Tay-Sachs disease (predicted)
(-;TTC) 3 Carrier of a Tay-Sachs mutation
(CTT;CTT) 0 common in clinvar
(TCT;TCT) 0 common in clinvar
(TTC;TTC) 0 common in complete genomics

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