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rs587777382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777382(C;C)
Make rs587777382(C;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position99859482
GeneVPS13B
is asnp
is mentioned by
dbSNPrs587777382
ebirs587777382
HLIrs587777382
Exacrs587777382
Varsomers587777382
Maprs587777382
PheGenIrs587777382
hapmaprs587777382
1000 genomesrs587777382
hgdprs587777382
ensemblrs587777382
gopubmedrs587777382
geneviewrs587777382
scholarrs587777382
googlers587777382
pharmgkbrs587777382
gwascentralrs587777382
openSNPrs587777382
23andMers587777382
23andMe allrs587777382
SNP Nexus

SNPshotrs587777382
SNPdbers587777382
MSV3drs587777382
GWAS Ctlgrs587777382
Max Magnitude0
ClinVar
Risk rs587777382(C;C)
Alt rs587777382(C;C)
Reference rs587777382(T;T)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100871710T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119264.3,