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rs104893825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893825(G;T)
Make rs104893825(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149819
GeneVHL
is asnp
is mentioned by
dbSNPrs104893825
ebirs104893825
HLIrs104893825
Exacrs104893825
Varsomers104893825
Maprs104893825
PheGenIrs104893825
hapmaprs104893825
1000 genomesrs104893825
hgdprs104893825
ensemblrs104893825
gopubmedrs104893825
geneviewrs104893825
scholarrs104893825
googlers104893825
pharmgkbrs104893825
gwascentralrs104893825
openSNPrs104893825
23andMers104893825
23andMe allrs104893825
SNP Nexus

SNPshotrs104893825
SNPdbers104893825
MSV3drs104893825
GWAS Ctlgrs104893825
Max Magnitude0
OMIM608537
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893825(T;T)
Alt rs104893825(T;T)
Reference rs104893825(G;G)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.10191503G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002310.2, RCV000220823.1,