rs397507485
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397507485(A;A) |
Make rs397507485(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140739927 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs397507485 |
dbSNP (classic) | rs397507485 |
ClinGen | rs397507485 |
ebi | rs397507485 |
HLI | rs397507485 |
Exac | rs397507485 |
Gnomad | rs397507485 |
Varsome | rs397507485 |
LitVar | rs397507485 |
Map | rs397507485 |
PheGenI | rs397507485 |
Biobank | rs397507485 |
1000 genomes | rs397507485 |
hgdp | rs397507485 |
ensembl | rs397507485 |
geneview | rs397507485 |
scholar | rs397507485 |
rs397507485 | |
pharmgkb | rs397507485 |
gwascentral | rs397507485 |
openSNP | rs397507485 |
23andMe | rs397507485 |
SNPshot | rs397507485 |
SNPdbe | rs397507485 |
MSV3d | rs397507485 |
GWAS Ctlg | rs397507485 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507485(A;A) |
Alt | rs397507485(A;A) |
Reference | Rs397507485(G;G) |
Significance | Pathogenic |
Disease | Rasopathy |
Variation | info |
Gene | BRAF |
CLNDBN | Rasopathy |
Reversed | 1 |
HGVS | NC_000007.13:g.140439727C>T |
CLNSRC | ClinVar |
CLNACC | RCV000033342.2, |