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

rs28941770(A;G)

From SNPedia
(Redirected from I5012799(C;T))
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs28941770
GeneHEXA
Chromosome15
Position72,353,105
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8.8 Tay-Sachs disease (predicted)
(A;G) 3 Carrier of a Tay-Sachs mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Tay-Sachs mutation
(T;T) 8.8 Tay-Sachs disease (predicted)

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