rs76173977(T;T)
From SNPedia
Tay-Sachs disease |
Is a | genotype |
of | rs76173977 |
Gene | HEXA |
Chromosome | 15 |
Position | 72,348,047 |
mentioned | by |
Magnitude | 8.8 |
Repute | Bad |
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 |
Tay-Sachs disease, based on having two copies of a Tay-Sachs disease allele.