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rs386834075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs386834075(AC;T)
Make rs386834075(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99038494
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834075
ebirs386834075
HLIrs386834075
Exacrs386834075
Varsomers386834075
Maprs386834075
PheGenIrs386834075
hapmaprs386834075
1000 genomesrs386834075
hgdprs386834075
ensemblrs386834075
gopubmedrs386834075
geneviewrs386834075
scholarrs386834075
googlers386834075
pharmgkbrs386834075
gwascentralrs386834075
openSNPrs386834075
23andMers386834075
23andMe allrs386834075
SNP Nexus

SNPshotrs386834075
SNPdbers386834075
MSV3drs386834075
GWAS Ctlgrs386834075
Max Magnitude0
ClinVar
Risk rs386834075(T;T)
Alt rs386834075(T;T)
Reference rs386834075(AC;AC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100050722_100050723delACinsT
CLNSRC ClinVar
CLNACC RCV000050064.1,


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