rs80356704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2.5 | carrier of a myotonia congenita allele; variable in degree |
(T;T) | 6 | Myotonia congenita; quite variable in degree |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 143341938 |
Gene | CLCN1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356704 |
dbSNP (classic) | rs80356704 |
ClinGen | rs80356704 |
ebi | rs80356704 |
HLI | rs80356704 |
Exac | rs80356704 |
Gnomad | rs80356704 |
Varsome | rs80356704 |
LitVar | rs80356704 |
Map | rs80356704 |
PheGenI | rs80356704 |
Biobank | rs80356704 |
1000 genomes | rs80356704 |
hgdp | rs80356704 |
ensembl | rs80356704 |
geneview | rs80356704 |
scholar | rs80356704 |
rs80356704 | |
pharmgkb | rs80356704 |
gwascentral | rs80356704 |
openSNP | rs80356704 |
23andMe | rs80356704 |
SNPshot | rs80356704 |
SNPdbe | rs80356704 |
MSV3d | rs80356704 |
GWAS Ctlg | rs80356704 |
GMAF | 0.0004591 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs80356704(T;T) |
Alt | Rs80356704(T;T) |
Reference | Rs80356704(C;C) |
Significance | Pathogenic |
Disease | Myotonia congenita |
Variation | info |
Gene | CLCN1 |
CLNDBN | Myotonia congenita |
Reversed | 0 |
HGVS | NC_000007.13:g.143039031C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020102.1, |