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rs386834063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834063(-;-)
Make rs386834063(-;T)
Make rs386834063(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99870873
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834063
ebirs386834063
HLIrs386834063
Exacrs386834063
Varsomers386834063
Maprs386834063
PheGenIrs386834063
hapmaprs386834063
1000 genomesrs386834063
hgdprs386834063
ensemblrs386834063
gopubmedrs386834063
geneviewrs386834063
scholarrs386834063
googlers386834063
pharmgkbrs386834063
gwascentralrs386834063
openSNPrs386834063
23andMers386834063
23andMe allrs386834063
SNP Nexus

SNPshotrs386834063
SNPdbers386834063
MSV3drs386834063
GWAS Ctlgrs386834063
Max Magnitude0
ClinVar
Risk rs386834063(T;T)
Alt rs386834063(T;T)
Reference rs386834063(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883101dupT
CLNSRC ClinVar
CLNACC RCV000050050.1,


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