Promethease 0.1.82
Rs10282312
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs10282312 |
| hapmap | rs10282312 |
| hgdp | rs10282312 |
| ensembl | rs10282312 |
| gopubmed | rs10282312 |
| scholar | rs10282312 |
| rs10282312 | |
| pharmgkb | rs10282312 |
| hgvbaseg2p | rs10282312 |
| medrefsnp | rs10282312 |
| 23andMe | rs10282312 |
| SNP Nexus |
| Gene | CLCN1 |
| Chromosome | 7 |
| Orientation | plus |
| Position | 142727929 |
| Genotype | Effect |
|---|---|
| rs10282312(G;G)* | ? |
| rs10282312(G;T)* | ? |
| rs10282312(T;T)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | CLCN1 |
| allele | T |
| frequency | 0.983 |
| sift | TOLERATED |
| HuRef | 1103652725404 |
| Disease Association | Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) (MIM:255700); also known as Becker disease. |
| ? | (G;T) (T;T) |
|---|---|
|
| |
