rs121913227
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs121913227(AA;AA) |
Make rs121913227(AA;GT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 140753336 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs121913227 |
dbSNP (classic) | rs121913227 |
ClinGen | rs121913227 |
ebi | rs121913227 |
HLI | rs121913227 |
Exac | rs121913227 |
Gnomad | rs121913227 |
Varsome | rs121913227 |
LitVar | rs121913227 |
Map | rs121913227 |
PheGenI | rs121913227 |
Biobank | rs121913227 |
1000 genomes | rs121913227 |
hgdp | rs121913227 |
ensembl | rs121913227 |
geneview | rs121913227 |
scholar | rs121913227 |
rs121913227 | |
pharmgkb | rs121913227 |
gwascentral | rs121913227 |
openSNP | rs121913227 |
23andMe | rs121913227 |
SNPshot | rs121913227 |
SNPdbe | rs121913227 |
MSV3d | rs121913227 |
GWAS Ctlg | rs121913227 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913227(AA;AA) rs121913227(AG;AG) |
Alt | rs121913227(AA;AA) rs121913227(AG;AG) |
Reference | Rs121913227(GT;GT) |
Significance | Pathogenic |
Disease | Malignant melanoma |
Variation | info |
Gene | BRAF |
CLNDBN | Malignant melanoma |
Reversed | 1 |
HGVS | NC_000007.13:g.140453136_140453137delACinsCT; NC_000007.13:g.140453136_140453137delACinsTT |
CLNSRC | |
CLNACC | RCV000440177.1, RCV000422502.1, |