rs137853248(A;A)
From SNPedia
Schwartz Jampel syndrome type 1 |
Is a | genotype |
of | rs137853248 |
Gene | HSPG2 |
Chromosome | 1 |
Position | 21,864,874 |
mentioned | by |
Magnitude | 7.8 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7.8 | Schwartz Jampel syndrome type 1 |
(A;G) | 3 | Carrier for a Schwartz Jampel syndrome mutation |
(G;G) | 0 | common in clinvar |
See discussion and links via main rs-page