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

rs180177364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177364(-;-)
Make rs180177364(-;C)
Make rs180177364(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99641976
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177364
ebirs180177364
HLIrs180177364
Exacrs180177364
Varsomers180177364
Maprs180177364
PheGenIrs180177364
hapmaprs180177364
1000 genomesrs180177364
hgdprs180177364
ensemblrs180177364
gopubmedrs180177364
geneviewrs180177364
scholarrs180177364
googlers180177364
pharmgkbrs180177364
gwascentralrs180177364
openSNPrs180177364
23andMers180177364
23andMe allrs180177364
SNP Nexus

SNPshotrs180177364
SNPdbers180177364
MSV3drs180177364
GWAS Ctlgrs180177364
Max Magnitude0
ClinVar
Risk rs180177364(C;C)
Alt rs180177364(C;C)
Reference rs180177364(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100654204dupC
CLNSRC ClinVar
CLNACC RCV000050087.1, RCV000058900.1,


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