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rs1057516559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516559(A;A)
Make rs1057516559(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99766796
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516559
dbSNP (old)rs1057516559
ClinGenrs1057516559
ebirs1057516559
HLIrs1057516559
Exacrs1057516559
Gnomadrs1057516559
Varsomers1057516559
LitVarrs1057516559
Maprs1057516559
PheGenIrs1057516559
Biobankrs1057516559
1000 genomesrs1057516559
hgdprs1057516559
ensemblrs1057516559
gopubmedrs1057516559
geneviewrs1057516559
scholarrs1057516559
googlers1057516559
pharmgkbrs1057516559
gwascentralrs1057516559
openSNPrs1057516559
23andMers1057516559
23andMe allrs1057516559
SNPshotrs1057516559
SNPdbers1057516559
MSV3drs1057516559
GWAS Ctlgrs1057516559
Max Magnitude0
ClinVar
Risk rs1057516559(A;A)
Alt rs1057516559(A;A)
Reference Rs1057516559(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100779024G>A
CLNSRC
CLNACC RCV000411146.1,