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rs386834082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834082(C;C)
Make rs386834082(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99467636
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834082
ebirs386834082
HLIrs386834082
Exacrs386834082
Varsomers386834082
Maprs386834082
PheGenIrs386834082
hapmaprs386834082
1000 genomesrs386834082
hgdprs386834082
ensemblrs386834082
gopubmedrs386834082
geneviewrs386834082
scholarrs386834082
googlers386834082
pharmgkbrs386834082
gwascentralrs386834082
openSNPrs386834082
23andMers386834082
23andMe allrs386834082
SNP Nexus

SNPshotrs386834082
SNPdbers386834082
MSV3drs386834082
GWAS Ctlgrs386834082
Max Magnitude0
ClinVar
Risk rs386834082(C;C)
Alt rs386834082(C;C)
Reference rs386834082(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100479864T>C
CLNSRC ClinVar
CLNACC RCV000050073.1,


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