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

rs180177368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177368(G;T)
Make rs180177368(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99766801
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177368
ebirs180177368
HLIrs180177368
Exacrs180177368
Varsomers180177368
Maprs180177368
PheGenIrs180177368
hapmaprs180177368
1000 genomesrs180177368
hgdprs180177368
ensemblrs180177368
gopubmedrs180177368
geneviewrs180177368
scholarrs180177368
googlers180177368
pharmgkbrs180177368
gwascentralrs180177368
openSNPrs180177368
23andMers180177368
23andMe allrs180177368
SNP Nexus

SNPshotrs180177368
SNPdbers180177368
MSV3drs180177368
GWAS Ctlgrs180177368
Max Magnitude0
ClinVar
Risk rs180177368(T;T)
Alt rs180177368(T;T)
Reference rs180177368(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100779029G>T
CLNSRC ClinVar
CLNACC RCV000058903.1,


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