rs80356707
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356707(-;-) |
Make rs80356707(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 143346624 |
Gene | CLCN1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356707 |
dbSNP (classic) | rs80356707 |
ClinGen | rs80356707 |
ebi | rs80356707 |
HLI | rs80356707 |
Exac | rs80356707 |
Gnomad | rs80356707 |
Varsome | rs80356707 |
LitVar | rs80356707 |
Map | rs80356707 |
PheGenI | rs80356707 |
Biobank | rs80356707 |
1000 genomes | rs80356707 |
hgdp | rs80356707 |
ensembl | rs80356707 |
geneview | rs80356707 |
scholar | rs80356707 |
rs80356707 | |
pharmgkb | rs80356707 |
gwascentral | rs80356707 |
openSNP | rs80356707 |
23andMe | rs80356707 |
SNPshot | rs80356707 |
SNPdbe | rs80356707 |
MSV3d | rs80356707 |
GWAS Ctlg | rs80356707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356707(-;-) |
Alt | rs80356707(-;-) |
Reference | Rs80356707(G;G) |
Significance | Pathogenic |
Disease | Myotonia congenita |
Variation | info |
Gene | CLCN1 |
CLNDBN | Myotonia congenita |
Reversed | 0 |
HGVS | NC_000007.13:g.143043717delG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020105.1, |
[PMID 16629771] Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
[PMID 17097617] Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.