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rs180177366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177366(A;A)
Make rs180177366(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99717374
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177366
ebirs180177366
HLIrs180177366
Exacrs180177366
Varsomers180177366
Maprs180177366
PheGenIrs180177366
hapmaprs180177366
1000 genomesrs180177366
hgdprs180177366
ensemblrs180177366
gopubmedrs180177366
geneviewrs180177366
scholarrs180177366
googlers180177366
pharmgkbrs180177366
gwascentralrs180177366
openSNPrs180177366
23andMers180177366
23andMe allrs180177366
SNP Nexus

SNPshotrs180177366
SNPdbers180177366
MSV3drs180177366
GWAS Ctlgrs180177366
Max Magnitude0
ClinVar
Risk rs180177366(A;A)
Alt rs180177366(A;A)
Reference rs180177366(G;G)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100729602G>A
CLNSRC ClinVar
CLNACC RCV000050096.1, RCV000058902.1,


[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.