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rs5030819

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030819(C;T)
Make rs5030819(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10149813
GeneVHL
is asnp
is mentioned by
dbSNPrs5030819
ebirs5030819
HLIrs5030819
Exacrs5030819
Varsomers5030819
Maprs5030819
PheGenIrs5030819
hapmaprs5030819
1000 genomesrs5030819
hgdprs5030819
ensemblrs5030819
gopubmedrs5030819
geneviewrs5030819
scholarrs5030819
googlers5030819
pharmgkbrs5030819
gwascentralrs5030819
openSNPrs5030819
23andMers5030819
23andMe allrs5030819
SNP Nexus

SNPshotrs5030819
SNPdbers5030819
MSV3drs5030819
GWAS Ctlgrs5030819
Max Magnitude0
ClinVar
Risk rs5030819(T;T)
Alt rs5030819(T;T)
Reference rs5030819(C;C)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10191497C>T
CLNSRC
CLNACC RCV000208820.1,