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rs140936527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140936527(A;A)
Make rs140936527(A;C)
ReferenceGRCh38 38.1/142
Chromosome8
Position99274273
GeneVPS13B
is asnp
is mentioned by
dbSNPrs140936527
ebirs140936527
HLIrs140936527
Exacrs140936527
Varsomers140936527
Maprs140936527
PheGenIrs140936527
hapmaprs140936527
1000 genomesrs140936527
hgdprs140936527
ensemblrs140936527
gopubmedrs140936527
geneviewrs140936527
scholarrs140936527
googlers140936527
pharmgkbrs140936527
gwascentralrs140936527
openSNPrs140936527
23andMers140936527
23andMe allrs140936527
SNP Nexus

SNPshotrs140936527
SNPdbers140936527
MSV3drs140936527
GWAS Ctlgrs140936527
Max Magnitude0
ClinVar
Risk rs140936527(A;A)
Alt rs140936527(A;A)
Reference rs140936527(C;C)
Significance Pathogenic
Disease not provided Cohen syndrome
Variation info
Gene VPS13B
CLNDBN not provided Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100286501C>A
CLNSRC ClinVar Emory University
CLNACC RCV000081887.3, RCV000175340.1,