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rs5030816

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5030816(A;G)
Make rs5030816(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10149785
GeneVHL
is asnp
is mentioned by
dbSNPrs5030816
ebirs5030816
HLIrs5030816
Exacrs5030816
Varsomers5030816
Maprs5030816
PheGenIrs5030816
hapmaprs5030816
1000 genomesrs5030816
hgdprs5030816
ensemblrs5030816
gopubmedrs5030816
geneviewrs5030816
scholarrs5030816
googlers5030816
pharmgkbrs5030816
gwascentralrs5030816
openSNPrs5030816
23andMers5030816
23andMe allrs5030816
SNP Nexus

SNPshotrs5030816
SNPdbers5030816
MSV3drs5030816
GWAS Ctlgrs5030816
Max Magnitude0
ClinVar
Risk rs5030816(G,T;G,T)
Alt rs5030816(G,T;G,T)
Reference rs5030816(A;A)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.10191469A>G
CLNSRC
CLNACC RCV000208810.1, RCV000216737.1,