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

rs386834111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834111(-;-)
Make rs386834111(-;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99817708
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834111
ebirs386834111
HLIrs386834111
Exacrs386834111
Varsomers386834111
Maprs386834111
PheGenIrs386834111
hapmaprs386834111
1000 genomesrs386834111
hgdprs386834111
ensemblrs386834111
gopubmedrs386834111
geneviewrs386834111
scholarrs386834111
googlers386834111
pharmgkbrs386834111
gwascentralrs386834111
openSNPrs386834111
23andMers386834111
23andMe allrs386834111
SNP Nexus

SNPshotrs386834111
SNPdbers386834111
MSV3drs386834111
GWAS Ctlgrs386834111
Max Magnitude0
ClinVar
Risk rs386834111(;)
Alt rs386834111(;)
Reference rs386834111(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100829936delC
CLNSRC ClinVar
CLNACC RCV000050105.1,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.