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rs104893830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893830(C;C)
Make rs104893830(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146561
GeneVHL
is asnp
is mentioned by
dbSNPrs104893830
ebirs104893830
HLIrs104893830
Exacrs104893830
Varsomers104893830
Maprs104893830
PheGenIrs104893830
hapmaprs104893830
1000 genomesrs104893830
hgdprs104893830
ensemblrs104893830
gopubmedrs104893830
geneviewrs104893830
scholarrs104893830
googlers104893830
pharmgkbrs104893830
gwascentralrs104893830
openSNPrs104893830
23andMers104893830
23andMe allrs104893830
SNP Nexus

SNPshotrs104893830
SNPdbers104893830
MSV3drs104893830
GWAS Ctlgrs104893830
Max Magnitude0
OMIM608537
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104893830(C;C)
Alt rs104893830(C;C)
Reference rs104893830(G;G)
Significance Pathogenic
Disease Erythrocytosis Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188245G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002317.3, RCV000030586.2,


[PMID 818706] Hepatocellular transplantation for metabolic deficiencies: decrease of plasms bilirubin in Gunn rats.


[PMID 8956040] Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.


[PMID 11921283] Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.


[PMID 12393546] Mutations in the VHL gene in sporadic apparently congenital polycythemia.


[PMID 15300849] Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.


[PMID 16210343] Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.