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rs1057517447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517447(-;-)
Make rs1057517447(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99431587
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517447
dbSNP (old)rs1057517447
ClinGenrs1057517447
ebirs1057517447
HLIrs1057517447
Exacrs1057517447
Gnomadrs1057517447
Varsomers1057517447
Maprs1057517447
PheGenIrs1057517447
Biobankrs1057517447
1000 genomesrs1057517447
hgdprs1057517447
ensemblrs1057517447
gopubmedrs1057517447
geneviewrs1057517447
scholarrs1057517447
googlers1057517447
pharmgkbrs1057517447
gwascentralrs1057517447
openSNPrs1057517447
23andMers1057517447
23andMe allrs1057517447
SNPshotrs1057517447
SNPdbers1057517447
MSV3drs1057517447
GWAS Ctlgrs1057517447
Max Magnitude0
ClinVar
Risk rs1057517447(-;-)
Alt rs1057517447(-;-)
Reference Rs1057517447(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100443815delA
CLNSRC
CLNACC RCV000410238.1,