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rs180177363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177363(-;-)
Make rs180177363(-;AG)
Make rs180177363(AG;AG)
ReferenceGRCh38 38.1/141
Chromosome8
Position99641942
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177363
ebirs180177363
HLIrs180177363
Exacrs180177363
Varsomers180177363
Maprs180177363
PheGenIrs180177363
hapmaprs180177363
1000 genomesrs180177363
hgdprs180177363
ensemblrs180177363
gopubmedrs180177363
geneviewrs180177363
scholarrs180177363
googlers180177363
pharmgkbrs180177363
gwascentralrs180177363
openSNPrs180177363
23andMers180177363
23andMe allrs180177363
SNP Nexus

SNPshotrs180177363
SNPdbers180177363
MSV3drs180177363
GWAS Ctlgrs180177363
Max Magnitude0
ClinVar
Risk rs180177363(AG;AG)
Alt rs180177363(AG;AG)
Reference rs180177363(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100654169_100654170dupAG
CLNSRC ClinVar
CLNACC RCV000050086.2, RCV000058899.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. [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.