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rs267607170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Von Hippel-Lindau syndrome mutation
Make rs267607170(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149814
GeneVHL
is asnp
is mentioned by
dbSNPrs267607170
dbSNP (classic)rs267607170
ClinGenrs267607170
ebirs267607170
HLIrs267607170
Exacrs267607170
Gnomadrs267607170
Varsomers267607170
LitVarrs267607170
Maprs267607170
PheGenIrs267607170
Biobankrs267607170
1000 genomesrs267607170
hgdprs267607170
ensemblrs267607170
geneviewrs267607170
scholarrs267607170
googlers267607170
pharmgkbrs267607170
gwascentralrs267607170
openSNPrs267607170
23andMers267607170
SNPshotrs267607170
SNPdbers267607170
MSV3drs267607170
GWAS Ctlgrs267607170
Max Magnitude7
ClinVar
Risk rs267607170(G;G)
Alt rs267607170(G;G)
Reference Rs267607170(A;A)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10191498A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002326.3,