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rs1057516845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516845(-;-)
Make rs1057516845(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99820011
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516845
dbSNP (old)rs1057516845
ClinGenrs1057516845
ebirs1057516845
HLIrs1057516845
Exacrs1057516845
Gnomadrs1057516845
Varsomers1057516845
LitVarrs1057516845
Maprs1057516845
PheGenIrs1057516845
Biobankrs1057516845
1000 genomesrs1057516845
hgdprs1057516845
ensemblrs1057516845
gopubmedrs1057516845
geneviewrs1057516845
scholarrs1057516845
googlers1057516845
pharmgkbrs1057516845
gwascentralrs1057516845
openSNPrs1057516845
23andMers1057516845
23andMe allrs1057516845
SNPshotrs1057516845
SNPdbers1057516845
MSV3drs1057516845
GWAS Ctlgrs1057516845
Max Magnitude0
ClinVar
Risk rs1057516845(-;-)
Alt rs1057516845(-;-)
Reference Rs1057516845(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100832239delG
CLNSRC
CLNACC RCV000412055.1,