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rs180177374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177374(-;-)
Make rs180177374(-;C)
Make rs180177374(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99875504
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177374
ebirs180177374
HLIrs180177374
Exacrs180177374
Varsomers180177374
Maprs180177374
PheGenIrs180177374
hapmaprs180177374
1000 genomesrs180177374
hgdprs180177374
ensemblrs180177374
gopubmedrs180177374
geneviewrs180177374
scholarrs180177374
googlers180177374
pharmgkbrs180177374
gwascentralrs180177374
openSNPrs180177374
23andMers180177374
23andMe allrs180177374
SNP Nexus

SNPshotrs180177374
SNPdbers180177374
MSV3drs180177374
GWAS Ctlgrs180177374
Max Magnitude0
ClinVar
Risk rs180177374(C;C)
Alt rs180177374(C;C)
Reference rs180177374(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100887732dupC
CLNSRC ClinVar
CLNACC RCV000050057.1, RCV000058889.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. [PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.