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rs1057516568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516568(-;-)
Make rs1057516568(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835626
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516568
dbSNP (old)rs1057516568
ClinGenrs1057516568
ebirs1057516568
HLIrs1057516568
Exacrs1057516568
Gnomadrs1057516568
Varsomers1057516568
LitVarrs1057516568
Maprs1057516568
PheGenIrs1057516568
Biobankrs1057516568
1000 genomesrs1057516568
hgdprs1057516568
ensemblrs1057516568
gopubmedrs1057516568
geneviewrs1057516568
scholarrs1057516568
googlers1057516568
pharmgkbrs1057516568
gwascentralrs1057516568
openSNPrs1057516568
23andMers1057516568
23andMe allrs1057516568
SNPshotrs1057516568
SNPdbers1057516568
MSV3drs1057516568
GWAS Ctlgrs1057516568
Max Magnitude0
ClinVar
Risk rs1057516568(-;-)
Alt rs1057516568(-;-)
Reference Rs1057516568(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847854delC
CLNSRC
CLNACC RCV000409355.1,