rs121913388
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs121913388(C;C) |
Make rs121913388(C;T) |
Make rs121913388(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 21971121 |
Gene | CDKN2A |
is a | snp |
is | mentioned by |
dbSNP | rs121913388 |
dbSNP (classic) | rs121913388 |
ClinGen | rs121913388 |
ebi | rs121913388 |
HLI | rs121913388 |
Exac | rs121913388 |
Gnomad | rs121913388 |
Varsome | rs121913388 |
LitVar | rs121913388 |
Map | rs121913388 |
PheGenI | rs121913388 |
Biobank | rs121913388 |
1000 genomes | rs121913388 |
hgdp | rs121913388 |
ensembl | rs121913388 |
geneview | rs121913388 |
scholar | rs121913388 |
rs121913388 | |
pharmgkb | rs121913388 |
gwascentral | rs121913388 |
openSNP | rs121913388 |
23andMe | rs121913388 |
SNPshot | rs121913388 |
SNPdbe | rs121913388 |
MSV3d | rs121913388 |
GWAS Ctlg | rs121913388 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913388(G;G) rs121913388(T;T) |
Alt | rs121913388(G;G) rs121913388(T;T) |
Reference | rs121913388(C;C) |
Significance | Other |
Disease | Melanoma Malignant melanoma |
Variation | info |
Gene | CDKN2A |
CLNDBN | Melanoma, cutaneous malignant, susceptibility to, 2 Malignant melanoma |
Reversed | 1 |
HGVS | NC_000009.11:g.21971120G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010012.2, RCV000429694.1, |
[PMID 21499247] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.