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rs104893831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893831(G;T)
Make rs104893831(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146549
GeneVHL
is asnp
is mentioned by
dbSNPrs104893831
ebirs104893831
HLIrs104893831
Exacrs104893831
Varsomers104893831
Maprs104893831
PheGenIrs104893831
hapmaprs104893831
1000 genomesrs104893831
hgdprs104893831
ensemblrs104893831
gopubmedrs104893831
geneviewrs104893831
scholarrs104893831
googlers104893831
pharmgkbrs104893831
gwascentralrs104893831
openSNPrs104893831
23andMers104893831
23andMe allrs104893831
SNP Nexus

SNPshotrs104893831
SNPdbers104893831
MSV3drs104893831
GWAS Ctlgrs104893831
Max Magnitude0
OMIM608537
Desc
Variant0022
Relatedalso
ClinVar
Risk rs104893831(A,T;A,T)
Alt rs104893831(A,T;A,T)
Reference rs104893831(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not specified Erythrocytosis
Variation info
Gene VHL
CLNDBN Hereditary cancer-predisposing syndrome not specified Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10188233G>A; NC_000003.11:g.10188233G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000129380.2, RCV000236702.1, RCV000002318.3,