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

rs180177359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177359(-;-)
Make rs180177359(-;AAT)
Make rs180177359(AAT;AAT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99556508
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177359
ebirs180177359
HLIrs180177359
Exacrs180177359
Varsomers180177359
Maprs180177359
PheGenIrs180177359
hapmaprs180177359
1000 genomesrs180177359
hgdprs180177359
ensemblrs180177359
gopubmedrs180177359
geneviewrs180177359
scholarrs180177359
googlers180177359
pharmgkbrs180177359
gwascentralrs180177359
openSNPrs180177359
23andMers180177359
23andMe allrs180177359
SNP Nexus

SNPshotrs180177359
SNPdbers180177359
MSV3drs180177359
GWAS Ctlgrs180177359
Max Magnitude0
ClinVar
Risk rs180177359(AAT;AAT)
Alt rs180177359(AAT;AAT)
Reference rs180177359(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100568735_100568737dupATA
CLNSRC ClinVar
CLNACC RCV000050083.1, RCV000058895.1,


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