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rs1057516653

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516653(-;C)
Make rs1057516653(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99501718
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516653
dbSNP (old)rs1057516653
ClinGenrs1057516653
ebirs1057516653
HLIrs1057516653
Exacrs1057516653
Gnomadrs1057516653
Varsomers1057516653
Maprs1057516653
PheGenIrs1057516653
Biobankrs1057516653
1000 genomesrs1057516653
hgdprs1057516653
ensemblrs1057516653
gopubmedrs1057516653
geneviewrs1057516653
scholarrs1057516653
googlers1057516653
pharmgkbrs1057516653
gwascentralrs1057516653
openSNPrs1057516653
23andMers1057516653
23andMe allrs1057516653
SNPshotrs1057516653
SNPdbers1057516653
MSV3drs1057516653
GWAS Ctlgrs1057516653
Max Magnitude0
ClinVar
Risk rs1057516653(C;C)
Alt rs1057516653(C;C)
Reference Rs1057516653(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100513946dupC
CLNSRC
CLNACC RCV000410674.1,