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rs104893829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893829(C;T)
Make rs104893829(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142088
GeneVHL
is asnp
is mentioned by
dbSNPrs104893829
ebirs104893829
HLIrs104893829
Exacrs104893829
Varsomers104893829
Maprs104893829
PheGenIrs104893829
hapmaprs104893829
1000 genomesrs104893829
hgdprs104893829
ensemblrs104893829
gopubmedrs104893829
geneviewrs104893829
scholarrs104893829
googlers104893829
pharmgkbrs104893829
gwascentralrs104893829
openSNPrs104893829
23andMers104893829
23andMe allrs104893829
SNP Nexus

SNPshotrs104893829
SNPdbers104893829
MSV3drs104893829
GWAS Ctlgrs104893829
Merged fromRs28940299, Rs5030806
Max Magnitude0
OMIM608537
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104893829(T;T)
Alt rs104893829(T;T)
Reference rs104893829(C;C)
Significance Other
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Erythrocytosis
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10183772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002321.8, RCV000115744.4, RCV000213077.1, RCV000225752.1,


[PMID 982991] [Clinical characteristics of peptic ulcer in metallurgists].

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

[PMID 10340905] Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma.

[PMID 10761708] Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

[PMID 11114638] Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease.

[PMID 17997830OA-icon.png] Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.