rs180177041
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs180177041(C;C) |
Make rs180177041(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140777006 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs180177041 |
dbSNP (classic) | rs180177041 |
ClinGen | rs180177041 |
ebi | rs180177041 |
HLI | rs180177041 |
Exac | rs180177041 |
Gnomad | rs180177041 |
Varsome | rs180177041 |
LitVar | rs180177041 |
Map | rs180177041 |
PheGenI | rs180177041 |
Biobank | rs180177041 |
1000 genomes | rs180177041 |
hgdp | rs180177041 |
ensembl | rs180177041 |
geneview | rs180177041 |
scholar | rs180177041 |
rs180177041 | |
pharmgkb | rs180177041 |
gwascentral | rs180177041 |
openSNP | rs180177041 |
23andMe | rs180177041 |
SNPshot | rs180177041 |
SNPdbe | rs180177041 |
MSV3d | rs180177041 |
GWAS Ctlg | rs180177041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177041(C;C) |
Alt | rs180177041(C;C) |
Reference | Rs180177041(G;G) |
Significance | Pathogenic |
Disease | Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome |
Variation | info |
Gene | BRAF |
CLNDBN | Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.140476806C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015014.28, RCV000208775.1, |