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rs386834094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834094(-;-)
Make rs386834094(-;T)
Make rs386834094(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99641846
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834094
ebirs386834094
HLIrs386834094
Exacrs386834094
Varsomers386834094
Maprs386834094
PheGenIrs386834094
hapmaprs386834094
1000 genomesrs386834094
hgdprs386834094
ensemblrs386834094
gopubmedrs386834094
geneviewrs386834094
scholarrs386834094
googlers386834094
pharmgkbrs386834094
gwascentralrs386834094
openSNPrs386834094
23andMers386834094
23andMe allrs386834094
SNP Nexus

SNPshotrs386834094
SNPdbers386834094
MSV3drs386834094
GWAS Ctlgrs386834094
Max Magnitude0
ClinVar
Risk rs386834094(T;T)
Alt rs386834094(T;T)
Reference rs386834094(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654074dupT
CLNSRC ClinVar
CLNACC RCV000050085.1,


[PMID 20461111OA-icon.png] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.