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rs5030821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Von Hippel-Lindau syndrome mutation
(C;G) 7 Von Hippel-Lindau syndrome mutation
(G;G) 0 common in clinvar
(G;T) 7 Von Hippel-Lindau syndrome mutation


Make rs5030821(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149823
GeneVHL
is asnp
is mentioned by
dbSNPrs5030821
dbSNP (classic)rs5030821
ClinGenrs5030821
ebirs5030821
HLIrs5030821
Exacrs5030821
Gnomadrs5030821
Varsomers5030821
LitVarrs5030821
Maprs5030821
PheGenIrs5030821
Biobankrs5030821
1000 genomesrs5030821
hgdprs5030821
ensemblrs5030821
geneviewrs5030821
scholarrs5030821
googlers5030821
pharmgkbrs5030821
gwascentralrs5030821
openSNPrs5030821
23andMers5030821
23andMe allrs5030821
SNPshotrs5030821
SNPdbers5030821
MSV3drs5030821
GWAS Ctlgrs5030821
Max Magnitude7

aka c.500G>T (p.Arg167Leu or R167L), as well as c.500G>C (p.Arg167Pro or R167P), as well as c.500G>A (p.Arg167Gln or R167Q), all of which are considered pathogenic

23andMe name for c.500G>A variant: i3003391

OMIM608537
Desc
Variant0005
Relatedalso
ClinVar
Risk rs5030821(A;A)
Alt rs5030821(A;A)
Reference Rs5030821(G;G)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis not provided
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis, familial, 2 not provided
Reversed 0
HGVS NC_000003.11:g.10191507G>A; NC_000003.11:g.10191507G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002300.4, RCV000213850.2, RCV000225755.2, RCV000325074.2, RCV000492510.1,