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rs1057516302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516302(-;-)
Make rs1057516302(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99720516
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516302
dbSNP (old)rs1057516302
ClinGenrs1057516302
ebirs1057516302
HLIrs1057516302
Exacrs1057516302
Gnomadrs1057516302
Varsomers1057516302
Maprs1057516302
PheGenIrs1057516302
Biobankrs1057516302
1000 genomesrs1057516302
hgdprs1057516302
ensemblrs1057516302
gopubmedrs1057516302
geneviewrs1057516302
scholarrs1057516302
googlers1057516302
pharmgkbrs1057516302
gwascentralrs1057516302
openSNPrs1057516302
23andMers1057516302
23andMe allrs1057516302
SNPshotrs1057516302
SNPdbers1057516302
MSV3drs1057516302
GWAS Ctlgrs1057516302
Max Magnitude0
ClinVar
Risk rs1057516302(-;-)
Alt rs1057516302(-;-)
Reference Rs1057516302(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100732744delC
CLNSRC
CLNACC RCV000412351.1,