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rs386834087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834087(-;-)
Make rs386834087(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511278
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834087
ClinGenrs386834087
ebirs386834087
HLIrs386834087
Exacrs386834087
Varsomers386834087
Maprs386834087
PheGenIrs386834087
hapmaprs386834087
1000 genomesrs386834087
hgdprs386834087
ensemblrs386834087
gopubmedrs386834087
geneviewrs386834087
scholarrs386834087
googlers386834087
pharmgkbrs386834087
gwascentralrs386834087
openSNPrs386834087
23andMers386834087
23andMe allrs386834087
SNP Nexus

SNPshotrs386834087
SNPdbers386834087
MSV3drs386834087
GWAS Ctlgrs386834087
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs386834087(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523506delA
CLNSRC ClinVar
CLNACC RCV000050078.1,


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