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rs386834090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATAA;ATAA) 0 common in clinvar
Make rs386834090(-;-)
Make rs386834090(-;ATAA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99103007
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834090
ebirs386834090
HLIrs386834090
Exacrs386834090
Varsomers386834090
Maprs386834090
PheGenIrs386834090
hapmaprs386834090
1000 genomesrs386834090
hgdprs386834090
ensemblrs386834090
gopubmedrs386834090
geneviewrs386834090
scholarrs386834090
googlers386834090
pharmgkbrs386834090
gwascentralrs386834090
openSNPrs386834090
23andMers386834090
23andMe allrs386834090
SNP Nexus

SNPshotrs386834090
SNPdbers386834090
MSV3drs386834090
GWAS Ctlgrs386834090
Max Magnitude0
ClinVar
Risk rs386834090(;)
Alt rs386834090(;)
Reference rs386834090(ATAA;ATAA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100115235_100115238delATAA
CLNSRC ClinVar
CLNACC RCV000050081.1,


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