rs121913492
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121913492(A;T) |
Make rs121913492(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 77794572 |
Gene | GNAQ |
is a | snp |
is | mentioned by |
dbSNP | rs121913492 |
dbSNP (classic) | rs121913492 |
ClinGen | rs121913492 |
ebi | rs121913492 |
HLI | rs121913492 |
Exac | rs121913492 |
Gnomad | rs121913492 |
Varsome | rs121913492 |
LitVar | rs121913492 |
Map | rs121913492 |
PheGenI | rs121913492 |
Biobank | rs121913492 |
1000 genomes | rs121913492 |
hgdp | rs121913492 |
ensembl | rs121913492 |
geneview | rs121913492 |
scholar | rs121913492 |
rs121913492 | |
pharmgkb | rs121913492 |
gwascentral | rs121913492 |
openSNP | rs121913492 |
23andMe | rs121913492 |
SNPshot | rs121913492 |
SNPdbe | rs121913492 |
MSV3d | rs121913492 |
GWAS Ctlg | rs121913492 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913492(C;C) rs121913492(G;G) rs121913492(T;T) |
Alt | rs121913492(C;C) rs121913492(G;G) rs121913492(T;T) |
Reference | Rs121913492(A;A) |
Significance | Pathogenic |
Disease | Malignant melanoma Intraocular melanoma |
Variation | info |
Gene | GNAQ |
CLNDBN | Malignant melanoma Intraocular melanoma |
Reversed | 1 |
HGVS | NC_000009.11:g.80409488T>A; NC_000009.11:g.80409488T>C; NC_000009.11:g.80409488T>G |
CLNSRC | |
CLNACC | RCV000426416.1, RCV000436244.1, RCV000442822.1, RCV000425312.1, RCV000436033.1, |