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rs1057516274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057516274(AC;G)
Make rs1057516274(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99121318
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516274
dbSNP (old)rs1057516274
ClinGenrs1057516274
ebirs1057516274
HLIrs1057516274
Exacrs1057516274
Gnomadrs1057516274
Varsomers1057516274
Maprs1057516274
PheGenIrs1057516274
Biobankrs1057516274
1000 genomesrs1057516274
hgdprs1057516274
ensemblrs1057516274
gopubmedrs1057516274
geneviewrs1057516274
scholarrs1057516274
googlers1057516274
pharmgkbrs1057516274
gwascentralrs1057516274
openSNPrs1057516274
23andMers1057516274
23andMe allrs1057516274
SNPshotrs1057516274
SNPdbers1057516274
MSV3drs1057516274
GWAS Ctlgrs1057516274
Max Magnitude0
ClinVar
Risk rs1057516274(G;G)
Alt rs1057516274(G;G)
Reference Rs1057516274(AC;AC)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100133546_100133547delACinsG
CLNSRC
CLNACC RCV000412298.1,