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rs1057516324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516324(-;-)
Make rs1057516324(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99121240
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516324
dbSNP (old)rs1057516324
ClinGenrs1057516324
ebirs1057516324
HLIrs1057516324
Exacrs1057516324
Gnomadrs1057516324
Varsomers1057516324
Maprs1057516324
PheGenIrs1057516324
Biobankrs1057516324
1000 genomesrs1057516324
hgdprs1057516324
ensemblrs1057516324
gopubmedrs1057516324
geneviewrs1057516324
scholarrs1057516324
googlers1057516324
pharmgkbrs1057516324
gwascentralrs1057516324
openSNPrs1057516324
23andMers1057516324
23andMe allrs1057516324
SNPshotrs1057516324
SNPdbers1057516324
MSV3drs1057516324
GWAS Ctlgrs1057516324
Max Magnitude0
ClinVar
Risk rs1057516324(-;-)
Alt rs1057516324(-;-)
Reference Rs1057516324(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100133468delA
CLNSRC
CLNACC RCV000409173.1,