Have questions? Visit https://www.reddit.com/r/SNPedia

rs180177356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177356(C;T)
Make rs180177356(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99156609
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177356
ebirs180177356
HLIrs180177356
Exacrs180177356
Varsomers180177356
Maprs180177356
PheGenIrs180177356
hapmaprs180177356
1000 genomesrs180177356
hgdprs180177356
ensemblrs180177356
gopubmedrs180177356
geneviewrs180177356
scholarrs180177356
googlers180177356
pharmgkbrs180177356
gwascentralrs180177356
openSNPrs180177356
23andMers180177356
23andMe allrs180177356
SNP Nexus

SNPshotrs180177356
SNPdbers180177356
MSV3drs180177356
GWAS Ctlgrs180177356
Max Magnitude0
ClinVar
Risk rs180177356(T;T)
Alt rs180177356(T;T)
Reference rs180177356(C;C)
Significance Other
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100168837C>T
CLNSRC ClinVar
CLNACC RCV000050063.2, RCV000058892.1,


[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.