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rs121913492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913492(A;T)
Make rs121913492(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position77794572
GeneGNAQ
is asnp
is mentioned by
dbSNPrs121913492
dbSNP (old)rs121913492
ClinGenrs121913492
ebirs121913492
HLIrs121913492
Exacrs121913492
Gnomadrs121913492
Varsomers121913492
Maprs121913492
PheGenIrs121913492
Biobankrs121913492
1000 genomesrs121913492
hgdprs121913492
ensemblrs121913492
gopubmedrs121913492
geneviewrs121913492
scholarrs121913492
googlers121913492
pharmgkbrs121913492
gwascentralrs121913492
openSNPrs121913492
23andMers121913492
23andMe allrs121913492
SNPshotrs121913492
SNPdbers121913492
MSV3drs121913492
GWAS Ctlgrs121913492
Max Magnitude0
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,