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

rs386834096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834096(-;-)
Make rs386834096(-;A)
Make rs386834096(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642252
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834096
ebirs386834096
HLIrs386834096
Exacrs386834096
Varsomers386834096
Maprs386834096
PheGenIrs386834096
hapmaprs386834096
1000 genomesrs386834096
hgdprs386834096
ensemblrs386834096
gopubmedrs386834096
geneviewrs386834096
scholarrs386834096
googlers386834096
pharmgkbrs386834096
gwascentralrs386834096
openSNPrs386834096
23andMers386834096
23andMe allrs386834096
SNP Nexus

SNPshotrs386834096
SNPdbers386834096
MSV3drs386834096
GWAS Ctlgrs386834096
Max Magnitude0
ClinVar
Risk rs386834096(A;A)
Alt rs386834096(A;A)
Reference rs386834096(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654480dupA
CLNSRC ClinVar
CLNACC RCV000050089.1,


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