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rs1057516437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516437(G;G)
Make rs1057516437(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99853495
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516437
dbSNP (old)rs1057516437
ClinGenrs1057516437
ebirs1057516437
HLIrs1057516437
Exacrs1057516437
Gnomadrs1057516437
Varsomers1057516437
LitVarrs1057516437
Maprs1057516437
PheGenIrs1057516437
Biobankrs1057516437
1000 genomesrs1057516437
hgdprs1057516437
ensemblrs1057516437
gopubmedrs1057516437
geneviewrs1057516437
scholarrs1057516437
googlers1057516437
pharmgkbrs1057516437
gwascentralrs1057516437
openSNPrs1057516437
23andMers1057516437
23andMe allrs1057516437
SNPshotrs1057516437
SNPdbers1057516437
MSV3drs1057516437
GWAS Ctlgrs1057516437
Max Magnitude0
ClinVar
Risk rs1057516437(G;G)
Alt rs1057516437(G;G)
Reference Rs1057516437(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100865723T>G
CLNSRC
CLNACC RCV000411447.1,