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rs5030827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5030827(G;T)
Make rs5030827(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142097
GeneVHL
is asnp
is mentioned by
dbSNPrs5030827
ebirs5030827
HLIrs5030827
Exacrs5030827
Varsomers5030827
Maprs5030827
PheGenIrs5030827
hapmaprs5030827
1000 genomesrs5030827
hgdprs5030827
ensemblrs5030827
gopubmedrs5030827
geneviewrs5030827
scholarrs5030827
googlers5030827
pharmgkbrs5030827
gwascentralrs5030827
openSNPrs5030827
23andMers5030827
23andMe allrs5030827
SNP Nexus

SNPshotrs5030827
SNPdbers5030827
MSV3drs5030827
GWAS Ctlgrs5030827
Max Magnitude0
OMIM608537
Desc
Variant0025
Relatedalso
ClinVar
Risk rs5030827(T;T)
Alt rs5030827(T;T)
Reference rs5030827(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183781G>C; NC_000003.11:g.10183781G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000216720.1, RCV000002324.6,