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rs397516443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516443(G;G)
Make rs397516443(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146638
GeneVHL
is asnp
is mentioned by
dbSNPrs397516443
ebirs397516443
HLIrs397516443
Exacrs397516443
Varsomers397516443
Maprs397516443
PheGenIrs397516443
hapmaprs397516443
1000 genomesrs397516443
hgdprs397516443
ensemblrs397516443
gopubmedrs397516443
geneviewrs397516443
scholarrs397516443
googlers397516443
pharmgkbrs397516443
gwascentralrs397516443
openSNPrs397516443
23andMers397516443
23andMe allrs397516443
SNP Nexus

SNPshotrs397516443
SNPdbers397516443
MSV3drs397516443
GWAS Ctlgrs397516443
Max Magnitude0
ClinVar
Risk rs397516443(G;G)
Alt rs397516443(G;G)
Reference rs397516443(T;T)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188322T>G
CLNSRC ClinVar
CLNACC RCV000036545.2,