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rs5030804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5030804(A;G)
Make rs5030804(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position10142080
GeneVHL
is asnp
is mentioned by
dbSNPrs5030804
ebirs5030804
HLIrs5030804
Exacrs5030804
Varsomers5030804
Maprs5030804
PheGenIrs5030804
hapmaprs5030804
1000 genomesrs5030804
hgdprs5030804
ensemblrs5030804
gopubmedrs5030804
geneviewrs5030804
scholarrs5030804
googlers5030804
pharmgkbrs5030804
gwascentralrs5030804
openSNPrs5030804
23andMers5030804
23andMe allrs5030804
SNP Nexus

SNPshotrs5030804
SNPdbers5030804
MSV3drs5030804
GWAS Ctlgrs5030804
Max Magnitude0


ClinVar
Risk rs5030804(G;G)
Alt rs5030804(G;G)
Reference rs5030804(A;A)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183764A>C; NC_000003.11:g.10183764A>G; NC_000003.11:g.10183764A>T
CLNSRC HGMD
CLNACC RCV000208838.1, RCV000079207.5, RCV000208821.1,