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rs1057516789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516789(-;-)
Make rs1057516789(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99821481
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516789
dbSNP (classic)rs1057516789
ClinGenrs1057516789
ebirs1057516789
HLIrs1057516789
Exacrs1057516789
Gnomadrs1057516789
Varsomers1057516789
LitVarrs1057516789
Maprs1057516789
PheGenIrs1057516789
Biobankrs1057516789
1000 genomesrs1057516789
hgdprs1057516789
ensemblrs1057516789
geneviewrs1057516789
scholarrs1057516789
googlers1057516789
pharmgkbrs1057516789
gwascentralrs1057516789
openSNPrs1057516789
23andMers1057516789
23andMe allrs1057516789
SNPshotrs1057516789
SNPdbers1057516789
MSV3drs1057516789
GWAS Ctlgrs1057516789
Max Magnitude0
ClinVar
Risk rs1057516789(-;-)
Alt rs1057516789(-;-)
Reference Rs1057516789(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100833709delA
CLNSRC
CLNACC RCV000410741.1,