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rs5030818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030818(C;T)
Make rs5030818(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149804
GeneVHL
is asnp
is mentioned by
dbSNPrs5030818
ebirs5030818
HLIrs5030818
Exacrs5030818
Varsomers5030818
Maprs5030818
PheGenIrs5030818
hapmaprs5030818
1000 genomesrs5030818
hgdprs5030818
ensemblrs5030818
gopubmedrs5030818
geneviewrs5030818
scholarrs5030818
googlers5030818
pharmgkbrs5030818
gwascentralrs5030818
openSNPrs5030818
23andMers5030818
23andMe allrs5030818
SNP Nexus

SNPshotrs5030818
SNPdbers5030818
MSV3drs5030818
GWAS Ctlgrs5030818
Max Magnitude0
OMIM608537
Desc
Variant0006
Relatedalso
ClinVar
Risk rs5030818(G,T;G,T)
Alt rs5030818(G,T;G,T)
Reference rs5030818(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.10191488C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002301.4, RCV000161091.1,


[PMID 192708] Detection and semiquantitative estimation of thyroxine and diiodothyronine in liothyronine sodium.

[PMID 7987327] A novel mutation in the von Hippel-Lindau gene.

[PMID 12114495OA-icon.png] Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

[PMID 12202531] Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

[PMID 12351569] The pressure rises: update on the genetics of phaeochromocytoma.

[PMID 18584357] A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.