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rs386834122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834122(-;-)
Make rs386834122(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99835238
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834122
ebirs386834122
HLIrs386834122
Exacrs386834122
Varsomers386834122
Maprs386834122
PheGenIrs386834122
hapmaprs386834122
1000 genomesrs386834122
hgdprs386834122
ensemblrs386834122
gopubmedrs386834122
geneviewrs386834122
scholarrs386834122
googlers386834122
pharmgkbrs386834122
gwascentralrs386834122
openSNPrs386834122
23andMers386834122
23andMe allrs386834122
SNP Nexus

SNPshotrs386834122
SNPdbers386834122
MSV3drs386834122
GWAS Ctlgrs386834122
Max Magnitude0
ClinVar
Risk rs386834122(;)
Alt rs386834122(;)
Reference rs386834122(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847466delA
CLNSRC ClinVar
CLNACC RCV000050115.1,


[PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.