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rs386834100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
(CA;CA) 0 common in clinvar
Make rs386834100(-;-)
Make rs386834100(-;CA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99111143
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834100
ebirs386834100
HLIrs386834100
Exacrs386834100
Varsomers386834100
Maprs386834100
PheGenIrs386834100
hapmaprs386834100
1000 genomesrs386834100
hgdprs386834100
ensemblrs386834100
gopubmedrs386834100
geneviewrs386834100
scholarrs386834100
googlers386834100
pharmgkbrs386834100
gwascentralrs386834100
openSNPrs386834100
23andMers386834100
23andMe allrs386834100
SNP Nexus

SNPshotrs386834100
SNPdbers386834100
MSV3drs386834100
GWAS Ctlgrs386834100
Max Magnitude0
ClinVar
Risk rs386834100(;)
Alt rs386834100(;)
Reference rs386834100(AC;AC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100123371_100123372delCA
CLNSRC ClinVar
CLNACC RCV000050093.1,


[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.