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rs386834066

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTG;AGTG) 0 common in clinvar
(GTGA;GTGA) 0 common in clinvar
Make rs386834066(-;-)
Make rs386834066(-;AGTG)
ReferenceGRCh38 38.1/141
Chromosome8
Position99871572
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834066
ebirs386834066
HLIrs386834066
Exacrs386834066
Varsomers386834066
Maprs386834066
PheGenIrs386834066
hapmaprs386834066
1000 genomesrs386834066
hgdprs386834066
ensemblrs386834066
gopubmedrs386834066
geneviewrs386834066
scholarrs386834066
googlers386834066
pharmgkbrs386834066
gwascentralrs386834066
openSNPrs386834066
23andMers386834066
23andMe allrs386834066
SNP Nexus

SNPshotrs386834066
SNPdbers386834066
MSV3drs386834066
GWAS Ctlgrs386834066
Max Magnitude0
ClinVar
Risk rs386834066(;)
Alt rs386834066(;)
Reference rs386834066(GTGA;GTGA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883800_100883803delAGTG
CLNSRC ClinVar
CLNACC RCV000050053.2,


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