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rs104893831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Von Hippel-Lindau syndrome mutation
Make rs104893831(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146549
GeneVHL
is asnp
is mentioned by
dbSNPrs104893831
dbSNP (classic)rs104893831
ClinGenrs104893831
ebirs104893831
HLIrs104893831
Exacrs104893831
Gnomadrs104893831
Varsomers104893831
LitVarrs104893831
Maprs104893831
PheGenIrs104893831
Biobankrs104893831
1000 genomesrs104893831
hgdprs104893831
ensemblrs104893831
geneviewrs104893831
scholarrs104893831
googlers104893831
pharmgkbrs104893831
gwascentralrs104893831
openSNPrs104893831
23andMers104893831
SNPshotrs104893831
SNPdbers104893831
MSV3drs104893831
GWAS Ctlgrs104893831
Max Magnitude7

aka c.376G>T (p.Asp126Tyr or D126Y), which is the pathogenic variant; note also that c.376G>A (p.Asp126Asn) and c.376G>C (p.Asp126His) are known, but their pathogenicity is uncertain according to ClinVar submitters

23andMe name for c.376G>T: i5006379

OMIM608537
Desc
Variant0022
Relatedalso
ClinVar
Risk rs104893831(A;A) rs104893831(T;T)
Alt rs104893831(A;A) rs104893831(T;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 UniProtKB (protein)
CLNACC RCV000129380.2, RCV000236702.1, RCV000002318.3,