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rs386834109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834109(-;-)
Make rs386834109(-;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99784396
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834109
ebirs386834109
HLIrs386834109
Exacrs386834109
Varsomers386834109
Maprs386834109
PheGenIrs386834109
hapmaprs386834109
1000 genomesrs386834109
hgdprs386834109
ensemblrs386834109
gopubmedrs386834109
geneviewrs386834109
scholarrs386834109
googlers386834109
pharmgkbrs386834109
gwascentralrs386834109
openSNPrs386834109
23andMers386834109
23andMe allrs386834109
SNP Nexus

SNPshotrs386834109
SNPdbers386834109
MSV3drs386834109
GWAS Ctlgrs386834109
Max Magnitude0
ClinVar
Risk rs386834109(;)
Alt rs386834109(;)
Reference rs386834109(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100796624delC
CLNSRC ClinVar
CLNACC RCV000050103.1,


[PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.