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rs397514698

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514698(A;A)
Make rs397514698(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position77797577
GeneGNAQ
is asnp
is mentioned by
dbSNPrs397514698
ebirs397514698
HLIrs397514698
Exacrs397514698
Varsomers397514698
Maprs397514698
PheGenIrs397514698
hapmaprs397514698
1000 genomesrs397514698
hgdprs397514698
ensemblrs397514698
gopubmedrs397514698
geneviewrs397514698
scholarrs397514698
googlers397514698
pharmgkbrs397514698
gwascentralrs397514698
openSNPrs397514698
23andMers397514698
23andMe allrs397514698
SNP Nexus

SNPshotrs397514698
SNPdbers397514698
MSV3drs397514698
GWAS Ctlgrs397514698
Max Magnitude0
ClinVar
Risk rs397514698(A;A)
Alt rs397514698(A;A)
Reference rs397514698(G;G)
Significance Pathogenic
Disease Sturge-Weber syndrome Capillary malformations
Variation info
Gene GNAQ
CLNDBN Sturge-Weber syndrome Capillary malformations, congenital
Reversed 1
HGVS NC_000009.11:g.80412493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043592.5, RCV000043593.5,