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rs1057516923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516923(A;A)
Make rs1057516923(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99135734
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516923
dbSNP (old)rs1057516923
ClinGenrs1057516923
ebirs1057516923
HLIrs1057516923
Exacrs1057516923
Gnomadrs1057516923
Varsomers1057516923
LitVarrs1057516923
Maprs1057516923
PheGenIrs1057516923
Biobankrs1057516923
1000 genomesrs1057516923
hgdprs1057516923
ensemblrs1057516923
gopubmedrs1057516923
geneviewrs1057516923
scholarrs1057516923
googlers1057516923
pharmgkbrs1057516923
gwascentralrs1057516923
openSNPrs1057516923
23andMers1057516923
23andMe allrs1057516923
SNPshotrs1057516923
SNPdbers1057516923
MSV3drs1057516923
GWAS Ctlgrs1057516923
Max Magnitude0
ClinVar
Risk rs1057516923(A;A)
Alt rs1057516923(A;A)
Reference Rs1057516923(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100147962G>A
CLNSRC
CLNACC RCV000409808.1,