rs776073429
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs776073429(A;A) |
Make rs776073429(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 143323387 |
Gene | CLCN1 |
is a | snp |
is | mentioned by |
dbSNP | rs776073429 |
dbSNP (classic) | rs776073429 |
ClinGen | rs776073429 |
ebi | rs776073429 |
HLI | rs776073429 |
Exac | rs776073429 |
Gnomad | rs776073429 |
Varsome | rs776073429 |
LitVar | rs776073429 |
Map | rs776073429 |
PheGenI | rs776073429 |
Biobank | rs776073429 |
1000 genomes | rs776073429 |
hgdp | rs776073429 |
ensembl | rs776073429 |
geneview | rs776073429 |
scholar | rs776073429 |
rs776073429 | |
pharmgkb | rs776073429 |
gwascentral | rs776073429 |
openSNP | rs776073429 |
23andMe | rs776073429 |
SNPshot | rs776073429 |
SNPdbe | rs776073429 |
MSV3d | rs776073429 |
GWAS Ctlg | rs776073429 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776073429(A;A) |
Alt | rs776073429(A;A) |
Reference | Rs776073429(G;G) |
Significance | Pathogenic |
Disease | not provided Myotonia congenita |
Variation | info |
Gene | CLCN1 |
CLNDBN | not provided Myotonia congenita |
Reversed | 0 |
HGVS | NC_000007.13:g.143020480G>A |
CLNSRC | Illumina |
CLNACC | RCV000254934.1, RCV000305146.1, |