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rs1057516926

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516926(-;-)
Make rs1057516926(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99431558
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516926
dbSNP (old)rs1057516926
ClinGenrs1057516926
ebirs1057516926
HLIrs1057516926
Exacrs1057516926
Gnomadrs1057516926
Varsomers1057516926
Maprs1057516926
PheGenIrs1057516926
Biobankrs1057516926
1000 genomesrs1057516926
hgdprs1057516926
ensemblrs1057516926
gopubmedrs1057516926
geneviewrs1057516926
scholarrs1057516926
googlers1057516926
pharmgkbrs1057516926
gwascentralrs1057516926
openSNPrs1057516926
23andMers1057516926
23andMe allrs1057516926
SNPshotrs1057516926
SNPdbers1057516926
MSV3drs1057516926
GWAS Ctlgrs1057516926
Max Magnitude0
ClinVar
Risk rs1057516926(-;-)
Alt rs1057516926(-;-)
Reference Rs1057516926(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100443786delC
CLNSRC
CLNACC RCV000410176.1,