rs397507479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 7 | Rasopathy; Cardio-facio-cutaneous syndrome |
(G;G) | 0 | common in clinvar |
Make rs397507479(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140777011 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs397507479 |
dbSNP (classic) | rs397507479 |
ClinGen | rs397507479 |
ebi | rs397507479 |
HLI | rs397507479 |
Exac | rs397507479 |
Gnomad | rs397507479 |
Varsome | rs397507479 |
LitVar | rs397507479 |
Map | rs397507479 |
PheGenI | rs397507479 |
Biobank | rs397507479 |
1000 genomes | rs397507479 |
hgdp | rs397507479 |
ensembl | rs397507479 |
geneview | rs397507479 |
scholar | rs397507479 |
rs397507479 | |
pharmgkb | rs397507479 |
gwascentral | rs397507479 |
openSNP | rs397507479 |
23andMe | rs397507479 |
SNPshot | rs397507479 |
SNPdbe | rs397507479 |
MSV3d | rs397507479 |
GWAS Ctlg | rs397507479 |
Max Magnitude | 7 |
aka c.1595G>A (p.Cys532Tyr)
ClinVar | |
---|---|
Risk | rs397507479(A;A) |
Alt | rs397507479(A;A) |
Reference | Rs397507479(G;G) |
Significance | Pathogenic |
Disease | not provided Cardio-facio-cutaneous syndrome not specified |
Variation | info |
Gene | BRAF |
CLNDBN | not provided Cardio-facio-cutaneous syndrome not specified |
Reversed | 1 |
HGVS | NC_000007.13:g.140476811C>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000080902.6, RCV000150205.2, RCV000259083.1, |