rs774843953
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs774843953(C;C) |
Make rs774843953(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 143332755 |
Gene | CLCN1 |
is a | snp |
is | mentioned by |
dbSNP | rs774843953 |
dbSNP (classic) | rs774843953 |
ClinGen | rs774843953 |
ebi | rs774843953 |
HLI | rs774843953 |
Exac | rs774843953 |
Gnomad | rs774843953 |
Varsome | rs774843953 |
LitVar | rs774843953 |
Map | rs774843953 |
PheGenI | rs774843953 |
Biobank | rs774843953 |
1000 genomes | rs774843953 |
hgdp | rs774843953 |
ensembl | rs774843953 |
geneview | rs774843953 |
scholar | rs774843953 |
rs774843953 | |
pharmgkb | rs774843953 |
gwascentral | rs774843953 |
openSNP | rs774843953 |
23andMe | rs774843953 |
SNPshot | rs774843953 |
SNPdbe | rs774843953 |
MSV3d | rs774843953 |
GWAS Ctlg | rs774843953 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774843953(C;C) |
Alt | rs774843953(C;C) |
Reference | Rs774843953(T;T) |
Significance | Pathogenic |
Disease | Myotonia congenita |
Variation | info |
Gene | CLCN1 |
CLNDBN | Myotonia congenita |
Reversed | 0 |
HGVS | NC_000007.13:g.143029848T>C |
CLNSRC | |
CLNACC | RCV000193137.1, |