rs397516904
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397516904(A;C) |
Make rs397516904(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140801487 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs397516904 |
dbSNP (classic) | rs397516904 |
ClinGen | rs397516904 |
ebi | rs397516904 |
HLI | rs397516904 |
Exac | rs397516904 |
Gnomad | rs397516904 |
Varsome | rs397516904 |
LitVar | rs397516904 |
Map | rs397516904 |
PheGenI | rs397516904 |
Biobank | rs397516904 |
1000 genomes | rs397516904 |
hgdp | rs397516904 |
ensembl | rs397516904 |
geneview | rs397516904 |
scholar | rs397516904 |
rs397516904 | |
pharmgkb | rs397516904 |
gwascentral | rs397516904 |
openSNP | rs397516904 |
23andMe | rs397516904 |
SNPshot | rs397516904 |
SNPdbe | rs397516904 |
MSV3d | rs397516904 |
GWAS Ctlg | rs397516904 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516904(C;C) rs397516904(G;G) |
Alt | rs397516904(C;C) rs397516904(G;G) |
Reference | Rs397516904(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Rasopathy Cardio-facio-cutaneous syndrome |
Variation | info |
Gene | BRAF |
CLNDBN | not provided Rasopathy Cardio-facio-cutaneous syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.140501287T>C; NC_000007.13:g.140501287T>G |
CLNSRC | ClinVar |
CLNACC | RCV000157699.1, RCV000205969.1, RCV000208128.2, RCV000392102.1, |