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rs1057516538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516538(-;-)
Make rs1057516538(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99821308
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516538
dbSNP (old)rs1057516538
ClinGenrs1057516538
ebirs1057516538
HLIrs1057516538
Exacrs1057516538
Gnomadrs1057516538
Varsomers1057516538
Maprs1057516538
PheGenIrs1057516538
Biobankrs1057516538
1000 genomesrs1057516538
hgdprs1057516538
ensemblrs1057516538
gopubmedrs1057516538
geneviewrs1057516538
scholarrs1057516538
googlers1057516538
pharmgkbrs1057516538
gwascentralrs1057516538
openSNPrs1057516538
23andMers1057516538
23andMe allrs1057516538
SNPshotrs1057516538
SNPdbers1057516538
MSV3drs1057516538
GWAS Ctlgrs1057516538
Max Magnitude0
ClinVar
Risk rs1057516538(-;-)
Alt rs1057516538(-;-)
Reference Rs1057516538(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100833536delT
CLNSRC
CLNACC RCV000411201.1,