rs119103258(T;T)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs119103258 |
Gene | PYGM, RASGRP2 |
Chromosome | 11 |
Position | 64,746,796 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | McArdle disease (also known as glycogen storage disease type V) |
(A;T) | 3 | Carrier of a McArdle disease mutation |
(C;T) | 3 | Carrier of a McArdle disease mutation |
(T;T) | 0 | common in clinvar |