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rs397516445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516445(C;C)
Make rs397516445(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149820
GeneVHL
is asnp
is mentioned by
dbSNPrs397516445
ebirs397516445
HLIrs397516445
Exacrs397516445
Varsomers397516445
Maprs397516445
PheGenIrs397516445
hapmaprs397516445
1000 genomesrs397516445
hgdprs397516445
ensemblrs397516445
gopubmedrs397516445
geneviewrs397516445
scholarrs397516445
googlers397516445
pharmgkbrs397516445
gwascentralrs397516445
openSNPrs397516445
23andMers397516445
23andMe allrs397516445
SNP Nexus

SNPshotrs397516445
SNPdbers397516445
MSV3drs397516445
GWAS Ctlgrs397516445
Max Magnitude0
ClinVar
Risk rs397516445(C;C)
Alt rs397516445(C;C)
Reference rs397516445(T;T)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.10191504T>C
CLNSRC ClinVar
CLNACC RCV000036549.2, RCV000161081.1,