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rs1057517076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057517076(-;-)
Make rs1057517076(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99102964
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517076
dbSNP (old)rs1057517076
ClinGenrs1057517076
ebirs1057517076
HLIrs1057517076
Exacrs1057517076
Gnomadrs1057517076
Varsomers1057517076
Maprs1057517076
PheGenIrs1057517076
Biobankrs1057517076
1000 genomesrs1057517076
hgdprs1057517076
ensemblrs1057517076
gopubmedrs1057517076
geneviewrs1057517076
scholarrs1057517076
googlers1057517076
pharmgkbrs1057517076
gwascentralrs1057517076
openSNPrs1057517076
23andMers1057517076
23andMe allrs1057517076
SNPshotrs1057517076
SNPdbers1057517076
MSV3drs1057517076
GWAS Ctlgrs1057517076
Max Magnitude0
ClinVar
Risk rs1057517076(-;-)
Alt rs1057517076(-;-)
Reference Rs1057517076(AG;AG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100115192_100115193delAG
CLNSRC
CLNACC RCV000409911.1,