Have questions? Visit https://www.reddit.com/r/SNPedia

rs367545984

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Von Hippel-Lindau syndrome mutation
Make rs367545984(A;A)
Make rs367545984(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position10149879
GeneVHL
is asnp
is mentioned by
dbSNPrs367545984
dbSNP (classic)rs367545984
ClinGenrs367545984
ebirs367545984
HLIrs367545984
Exacrs367545984
Gnomadrs367545984
Varsomers367545984
LitVarrs367545984
Maprs367545984
PheGenIrs367545984
Biobankrs367545984
1000 genomesrs367545984
hgdprs367545984
ensemblrs367545984
geneviewrs367545984
scholarrs367545984
googlers367545984
pharmgkbrs367545984
gwascentralrs367545984
openSNPrs367545984
23andMers367545984
23andMe allrs367545984
SNPshotrs367545984
SNPdbers367545984
MSV3drs367545984
GWAS Ctlgrs367545984
Max Magnitude7
ClinVar
Risk rs367545984(A;A) rs367545984(T;T)
Alt rs367545984(A;A) rs367545984(T;T)
Reference Rs367545984(G;G)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome not specified not provided
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome not specified not provided
Reversed 0
HGVS NC_000003.11:g.10191563G>A; NC_000003.11:g.10191563G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000148924.1, RCV000235746.1, RCV000432980.1,