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rs34757931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34757931(G;G)
Make rs34757931(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position119081189
GeneVPS11
is asnp
is mentioned by
dbSNPrs34757931
dbSNP (classic)rs34757931
ClinGenrs34757931
ebirs34757931
HLIrs34757931
Exacrs34757931
Gnomadrs34757931
Varsomers34757931
LitVarrs34757931
Maprs34757931
PheGenIrs34757931
Biobankrs34757931
1000 genomesrs34757931
hgdprs34757931
ensemblrs34757931
geneviewrs34757931
scholarrs34757931
googlers34757931
pharmgkbrs34757931
gwascentralrs34757931
openSNPrs34757931
23andMers34757931
SNPshotrs34757931
SNPdbers34757931
MSV3drs34757931
GWAS Ctlgrs34757931
Max Magnitude0
ClinVar
Risk rs34757931(G;G)
Alt rs34757931(G;G)
Reference Rs34757931(T;T)
Significance Pathogenic
Disease Leukoencephalopathy Leukodystrophy
Variation info
Gene VPS11
CLNDBN Leukoencephalopathy Leukodystrophy, hypomyelinating, 12
Reversed 0
HGVS NC_000011.9:g.118951899T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202610.1, RCV000203530.3,