rs397516894
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516894(C;T) |
Make rs397516894(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 140754208 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs397516894 |
dbSNP (classic) | rs397516894 |
ClinGen | rs397516894 |
ebi | rs397516894 |
HLI | rs397516894 |
Exac | rs397516894 |
Gnomad | rs397516894 |
Varsome | rs397516894 |
LitVar | rs397516894 |
Map | rs397516894 |
PheGenI | rs397516894 |
Biobank | rs397516894 |
1000 genomes | rs397516894 |
hgdp | rs397516894 |
ensembl | rs397516894 |
geneview | rs397516894 |
scholar | rs397516894 |
rs397516894 | |
pharmgkb | rs397516894 |
gwascentral | rs397516894 |
openSNP | rs397516894 |
23andMe | rs397516894 |
SNPshot | rs397516894 |
SNPdbe | rs397516894 |
MSV3d | rs397516894 |
GWAS Ctlg | rs397516894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516894(G;G) rs397516894(T;T) |
Alt | rs397516894(G;G) rs397516894(T;T) |
Reference | Rs397516894(C;C) |
Significance | Pathogenic |
Disease | Cardio-facio-cutaneous syndrome |
Variation | info |
Gene | BRAF |
CLNDBN | Cardio-facio-cutaneous syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.140454008G>A |
CLNSRC | |
CLNACC | RCV000037928.2, |