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rs1057517318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517318(-;-)
Make rs1057517318(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99717224
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517318
dbSNP (old)rs1057517318
ClinGenrs1057517318
ebirs1057517318
HLIrs1057517318
Exacrs1057517318
Gnomadrs1057517318
Varsomers1057517318
Maprs1057517318
PheGenIrs1057517318
Biobankrs1057517318
1000 genomesrs1057517318
hgdprs1057517318
ensemblrs1057517318
gopubmedrs1057517318
geneviewrs1057517318
scholarrs1057517318
googlers1057517318
pharmgkbrs1057517318
gwascentralrs1057517318
openSNPrs1057517318
23andMers1057517318
23andMe allrs1057517318
SNPshotrs1057517318
SNPdbers1057517318
MSV3drs1057517318
GWAS Ctlgrs1057517318
Max Magnitude0
ClinVar
Risk rs1057517318(-;-)
Alt rs1057517318(-;-)
Reference Rs1057517318(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100729452delA
CLNSRC
CLNACC RCV000411806.1,