Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTA;GTA) 0 common in clinvar
Make rs1057516807(-;-)
Make rs1057516807(-;AGT)
Make rs1057516807(AGT;AGT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99823830
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516807
dbSNP (old)rs1057516807
ClinGenrs1057516807
ebirs1057516807
HLIrs1057516807
Exacrs1057516807
Gnomadrs1057516807
Varsomers1057516807
Maprs1057516807
PheGenIrs1057516807
Biobankrs1057516807
1000 genomesrs1057516807
hgdprs1057516807
ensemblrs1057516807
gopubmedrs1057516807
geneviewrs1057516807
scholarrs1057516807
googlers1057516807
pharmgkbrs1057516807
gwascentralrs1057516807
openSNPrs1057516807
23andMers1057516807
23andMe allrs1057516807
SNPshotrs1057516807
SNPdbers1057516807
MSV3drs1057516807
GWAS Ctlgrs1057516807
Max Magnitude0
ClinVar
Risk rs1057516807(-;-)
Alt rs1057516807(-;-)
Reference Rs1057516807(GTA;GTA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100836058_100836060delAGT
CLNSRC
CLNACC RCV000411468.1,