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rs1057516276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516276(-;-)
Make rs1057516276(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99820119
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516276
dbSNP (old)rs1057516276
ClinGenrs1057516276
ebirs1057516276
HLIrs1057516276
Exacrs1057516276
Gnomadrs1057516276
Varsomers1057516276
LitVarrs1057516276
Maprs1057516276
PheGenIrs1057516276
Biobankrs1057516276
1000 genomesrs1057516276
hgdprs1057516276
ensemblrs1057516276
gopubmedrs1057516276
geneviewrs1057516276
scholarrs1057516276
googlers1057516276
pharmgkbrs1057516276
gwascentralrs1057516276
openSNPrs1057516276
23andMers1057516276
23andMe allrs1057516276
SNPshotrs1057516276
SNPdbers1057516276
MSV3drs1057516276
GWAS Ctlgrs1057516276
Max Magnitude0
ClinVar
Risk rs1057516276(-;-)
Alt rs1057516276(-;-)
Reference Rs1057516276(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100832347delT
CLNSRC
CLNACC RCV000412199.1,