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rs1057516284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs1057516284(CAAA;TGT)
Make rs1057516284(TGT;TGT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99870863
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516284
dbSNP (classic)rs1057516284
ClinGenrs1057516284
ebirs1057516284
HLIrs1057516284
Exacrs1057516284
Gnomadrs1057516284
Varsomers1057516284
LitVarrs1057516284
Maprs1057516284
PheGenIrs1057516284
Biobankrs1057516284
1000 genomesrs1057516284
hgdprs1057516284
ensemblrs1057516284
geneviewrs1057516284
scholarrs1057516284
googlers1057516284
pharmgkbrs1057516284
gwascentralrs1057516284
openSNPrs1057516284
23andMers1057516284
23andMe allrs1057516284
SNPshotrs1057516284
SNPdbers1057516284
MSV3drs1057516284
GWAS Ctlgrs1057516284
Max Magnitude0
ClinVar
Risk rs1057516284(TGT;TGT)
Alt rs1057516284(TGT;TGT)
Reference Rs1057516284(CAAA;CAAA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883091_100883094delCAAAinsTGT
CLNSRC
CLNACC RCV000410755.1,