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rs140353201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140353201(C;T)
Make rs140353201(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position99467566
GeneVPS13B
is asnp
is mentioned by
dbSNPrs140353201
ebirs140353201
HLIrs140353201
Exacrs140353201
Varsomers140353201
Maprs140353201
PheGenIrs140353201
hapmaprs140353201
1000 genomesrs140353201
hgdprs140353201
ensemblrs140353201
gopubmedrs140353201
geneviewrs140353201
scholarrs140353201
googlers140353201
pharmgkbrs140353201
gwascentralrs140353201
openSNPrs140353201
23andMers140353201
23andMe allrs140353201
SNP Nexus

SNPshotrs140353201
SNPdbers140353201
MSV3drs140353201
GWAS Ctlgrs140353201
Max Magnitude0
ClinVar
Risk rs140353201(T;T)
Alt rs140353201(T;T)
Reference rs140353201(C;C)
Significance Pathogenic
Disease not provided Cohen syndrome
Variation info
Gene VPS13B
CLNDBN not provided Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100479794C>T
CLNSRC ClinVar Emory University
CLNACC RCV000081893.3, RCV000176496.1,