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rs386834085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs386834085(-;A)
Make rs386834085(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511200
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834085
dbSNP (old)rs386834085
ClinGenrs386834085
ebirs386834085
HLIrs386834085
Exacrs386834085
Gnomadrs386834085
Varsomers386834085
Maprs386834085
PheGenIrs386834085
Biobankrs386834085
1000 genomesrs386834085
hgdprs386834085
ensemblrs386834085
gopubmedrs386834085
geneviewrs386834085
scholarrs386834085
googlers386834085
pharmgkbrs386834085
gwascentralrs386834085
openSNPrs386834085
23andMers386834085
23andMe allrs386834085
SNP Nexus

SNPshotrs386834085
SNPdbers386834085
MSV3drs386834085
GWAS Ctlgrs386834085
Max Magnitude0
ClinVar
Risk rs386834085(A;A)
Alt rs386834085(A;A)
Reference Rs386834085(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523428dupA
CLNSRC ClinVar
CLNACC RCV000050076.1,


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