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rs397516440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 7 Von Hippel-Lindau syndrome mutation
Make rs397516440(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142166
GeneVHL
is asnp
is mentioned by
dbSNPrs397516440
dbSNP (classic)rs397516440
ClinGenrs397516440
ebirs397516440
HLIrs397516440
Exacrs397516440
Gnomadrs397516440
Varsomers397516440
LitVarrs397516440
Maprs397516440
PheGenIrs397516440
Biobankrs397516440
1000 genomesrs397516440
hgdprs397516440
ensemblrs397516440
geneviewrs397516440
scholarrs397516440
googlers397516440
pharmgkbrs397516440
gwascentralrs397516440
openSNPrs397516440
23andMers397516440
SNPshotrs397516440
SNPdbers397516440
MSV3drs397516440
GWAS Ctlgrs397516440
Max Magnitude7
ClinVar
Risk rs397516440(G;G)
Alt rs397516440(G;G)
Reference Rs397516440(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183850C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000036542.3,