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rs587777381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777381(-;-)
Make rs587777381(-;T)
Make rs587777381(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position99642500
GeneVPS13B
is asnp
is mentioned by
dbSNPrs587777381
ebirs587777381
HLIrs587777381
Exacrs587777381
Varsomers587777381
Maprs587777381
PheGenIrs587777381
hapmaprs587777381
1000 genomesrs587777381
hgdprs587777381
ensemblrs587777381
gopubmedrs587777381
geneviewrs587777381
scholarrs587777381
googlers587777381
pharmgkbrs587777381
gwascentralrs587777381
openSNPrs587777381
23andMers587777381
23andMe allrs587777381
SNP Nexus

SNPshotrs587777381
SNPdbers587777381
MSV3drs587777381
GWAS Ctlgrs587777381
Max Magnitude0
ClinVar
Risk rs587777381(T;T)
Alt rs587777381(T;T)
Reference rs587777381(;)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654728dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000119263.3,