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rs5030807

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs5030807(A;A)
Make rs5030807(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position10142113
GeneVHL
is asnp
is mentioned by
dbSNPrs5030807
ebirs5030807
HLIrs5030807
Exacrs5030807
Varsomers5030807
Maprs5030807
PheGenIrs5030807
hapmaprs5030807
1000 genomesrs5030807
hgdprs5030807
ensemblrs5030807
gopubmedrs5030807
geneviewrs5030807
scholarrs5030807
googlers5030807
pharmgkbrs5030807
gwascentralrs5030807
openSNPrs5030807
23andMers5030807
23andMe allrs5030807
SNP Nexus

SNPshotrs5030807
SNPdbers5030807
MSV3drs5030807
GWAS Ctlgrs5030807
Max Magnitude0
ClinVar
Risk rs5030807(A,C;A,C)
Alt rs5030807(A,C;A,C)
Reference rs5030807(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene VHL
CLNDBN Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.10183797T>C
CLNSRC
CLNACC RCV000161087.1, RCV000208869.1, RCV000222299.1,