Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs147324677(C;G)

From SNPedia
(Redirected from I4000393(C;G))
Carrier for a Tay-Sachs mutation
Is agenotype
ofrs147324677
GeneHEXA
Chromosome15
Position72,346,234
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier for 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