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rs180177358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs180177358(-;-)
Make rs180177358(-;GT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99384318
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177358
ebirs180177358
HLIrs180177358
Exacrs180177358
Varsomers180177358
Maprs180177358
PheGenIrs180177358
hapmaprs180177358
1000 genomesrs180177358
hgdprs180177358
ensemblrs180177358
gopubmedrs180177358
geneviewrs180177358
scholarrs180177358
googlers180177358
pharmgkbrs180177358
gwascentralrs180177358
openSNPrs180177358
23andMers180177358
23andMe allrs180177358
SNP Nexus

SNPshotrs180177358
SNPdbers180177358
MSV3drs180177358
GWAS Ctlgrs180177358
Max Magnitude0
ClinVar
Risk rs180177358(;)
Alt rs180177358(;)
Reference rs180177358(GT;GT)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100396546_100396547delGT
CLNSRC ClinVar
CLNACC RCV000050070.1, RCV000058894.1,


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