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rs180177357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs180177357(-;-)
Make rs180177357(-;GCTC)
Make rs180177357(GCTC;GCTC)
ReferenceGRCh38 38.1/141
Chromosome8
Position99275160
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177357
ebirs180177357
HLIrs180177357
Exacrs180177357
Varsomers180177357
Maprs180177357
PheGenIrs180177357
hapmaprs180177357
1000 genomesrs180177357
hgdprs180177357
ensemblrs180177357
gopubmedrs180177357
geneviewrs180177357
scholarrs180177357
googlers180177357
pharmgkbrs180177357
gwascentralrs180177357
openSNPrs180177357
23andMers180177357
23andMe allrs180177357
SNP Nexus

SNPshotrs180177357
SNPdbers180177357
MSV3drs180177357
GWAS Ctlgrs180177357
Max Magnitude0
ClinVar
Risk rs180177357(GCTC;GCTC)
Alt rs180177357(GCTC;GCTC)
Reference rs180177357(;)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100287385_100287388dupGCTC
CLNSRC ClinVar
CLNACC RCV000050067.1, RCV000058893.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. [PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.