rs121913369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913369(C;G) |
Make rs121913369(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 140753346 |
Gene | BRAF |
is a | snp |
is | mentioned by |
dbSNP | rs121913369 |
dbSNP (classic) | rs121913369 |
ClinGen | rs121913369 |
ebi | rs121913369 |
HLI | rs121913369 |
Exac | rs121913369 |
Gnomad | rs121913369 |
Varsome | rs121913369 |
LitVar | rs121913369 |
Map | rs121913369 |
PheGenI | rs121913369 |
Biobank | rs121913369 |
1000 genomes | rs121913369 |
hgdp | rs121913369 |
ensembl | rs121913369 |
geneview | rs121913369 |
scholar | rs121913369 |
rs121913369 | |
pharmgkb | rs121913369 |
gwascentral | rs121913369 |
openSNP | rs121913369 |
23andMe | rs121913369 |
SNPshot | rs121913369 |
SNPdbe | rs121913369 |
MSV3d | rs121913369 |
GWAS Ctlg | rs121913369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913369(G;G) rs121913369(T;T) |
Alt | rs121913369(G;G) rs121913369(T;T) |
Reference | Rs121913369(C;C) |
Significance | Pathogenic |
Disease | Non-small cell lung cancer Noonan syndrome 7 Rasopathy Noonan syndrome 1 Lung cancer Malignant melanoma Neoplasm |
Variation | info |
Gene | BRAF |
CLNDBN | Non-small cell lung cancer Noonan syndrome 7 Rasopathy Noonan syndrome 1 Lung cancer Malignant melanoma Neoplasm |
Reversed | 1 |
HGVS | NC_000007.13:g.140453146G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015003.7, RCV000030948.27, RCV000033333.4, RCV000208539.1, RCV000419516.1, RCV000426915.1, RCV000437189.1, |