Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922609(C;C)
Make rs193922609(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142167
GeneVHL
is asnp
is mentioned by
dbSNPrs193922609
ebirs193922609
HLIrs193922609
Exacrs193922609
Varsomers193922609
Maprs193922609
PheGenIrs193922609
hapmaprs193922609
1000 genomesrs193922609
hgdprs193922609
ensemblrs193922609
gopubmedrs193922609
geneviewrs193922609
scholarrs193922609
googlers193922609
pharmgkbrs193922609
gwascentralrs193922609
openSNPrs193922609
23andMers193922609
23andMe allrs193922609
SNP Nexus

SNPshotrs193922609
SNPdbers193922609
MSV3drs193922609
GWAS Ctlgrs193922609
Max Magnitude0
ClinVar
Risk rs193922609(C;C)
Alt rs193922609(C;C)
Reference rs193922609(G;G)
Significance Other
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183851G>A; NC_000003.11:g.10183851G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000208864.1, RCV000030583.2,


[PMID 9829911] Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.


[PMID 12624160OA-icon.png] High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.


[PMID 18836774] Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.