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rs180177327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs180177327(-;-)
Make rs180177327(-;CT)
ReferenceGRCh38 38.1/141
Chromosome8
Position99442538
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177327
ebirs180177327
HLIrs180177327
Exacrs180177327
Varsomers180177327
Maprs180177327
PheGenIrs180177327
hapmaprs180177327
1000 genomesrs180177327
hgdprs180177327
ensemblrs180177327
gopubmedrs180177327
geneviewrs180177327
scholarrs180177327
googlers180177327
pharmgkbrs180177327
gwascentralrs180177327
openSNPrs180177327
23andMers180177327
23andMe allrs180177327
SNP Nexus

SNPshotrs180177327
SNPdbers180177327
MSV3drs180177327
GWAS Ctlgrs180177327
Max Magnitude0
ClinVar
Risk rs180177327(;)
Alt rs180177327(;)
Reference rs180177327(CT;CT)
Significance Pathogenic
Disease Cohen syndrome not provided
Variation info
Gene VPS13B
CLNDBN Cohen syndrome not provided
Reversed 0
HGVS NC_000008.10:g.100454766_100454767delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002952.4, RCV000058939.1,