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rs1057516651

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516651(-;-)
Make rs1057516651(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99871527
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516651
dbSNP (old)rs1057516651
ClinGenrs1057516651
ebirs1057516651
HLIrs1057516651
Exacrs1057516651
Gnomadrs1057516651
Varsomers1057516651
Maprs1057516651
PheGenIrs1057516651
Biobankrs1057516651
1000 genomesrs1057516651
hgdprs1057516651
ensemblrs1057516651
gopubmedrs1057516651
geneviewrs1057516651
scholarrs1057516651
googlers1057516651
pharmgkbrs1057516651
gwascentralrs1057516651
openSNPrs1057516651
23andMers1057516651
23andMe allrs1057516651
SNPshotrs1057516651
SNPdbers1057516651
MSV3drs1057516651
GWAS Ctlgrs1057516651
Max Magnitude0
ClinVar
Risk rs1057516651(-;-)
Alt rs1057516651(-;-)
Reference Rs1057516651(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883755delC
CLNSRC
CLNACC RCV000412009.1,