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rs386834101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs386834101(-;-)
Make rs386834101(-;GA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99699823
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834101
ebirs386834101
HLIrs386834101
Exacrs386834101
Varsomers386834101
Maprs386834101
PheGenIrs386834101
hapmaprs386834101
1000 genomesrs386834101
hgdprs386834101
ensemblrs386834101
gopubmedrs386834101
geneviewrs386834101
scholarrs386834101
googlers386834101
pharmgkbrs386834101
gwascentralrs386834101
openSNPrs386834101
23andMers386834101
23andMe allrs386834101
SNP Nexus

SNPshotrs386834101
SNPdbers386834101
MSV3drs386834101
GWAS Ctlgrs386834101
Max Magnitude0
ClinVar
Risk rs386834101(;)
Alt rs386834101(;)
Reference rs386834101(AG;AG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100712051_100712052delGA
CLNSRC ClinVar
CLNACC RCV000050094.1,


[PMID 12730828OA-icon.png] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.