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rs193922613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922613(A;G)
Make rs193922613(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149847
GeneVHL
is asnp
is mentioned by
dbSNPrs193922613
ebirs193922613
HLIrs193922613
Exacrs193922613
Varsomers193922613
Maprs193922613
PheGenIrs193922613
hapmaprs193922613
1000 genomesrs193922613
hgdprs193922613
ensemblrs193922613
gopubmedrs193922613
geneviewrs193922613
scholarrs193922613
googlers193922613
pharmgkbrs193922613
gwascentralrs193922613
openSNPrs193922613
23andMers193922613
23andMe allrs193922613
SNP Nexus

SNPshotrs193922613
SNPdbers193922613
MSV3drs193922613
GWAS Ctlgrs193922613
Max Magnitude0
ClinVar
Risk rs193922613(G;G)
Alt rs193922613(G;G)
Reference rs193922613(A;A)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10191531A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030589.1,


[PMID 14722919] Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

[PMID 15642680] Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

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

[PMID 17640059] Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.