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rs1057516532

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516532(-;-)
Make rs1057516532(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99170098
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516532
dbSNP (old)rs1057516532
ClinGenrs1057516532
ebirs1057516532
HLIrs1057516532
Exacrs1057516532
Gnomadrs1057516532
Varsomers1057516532
Maprs1057516532
PheGenIrs1057516532
Biobankrs1057516532
1000 genomesrs1057516532
hgdprs1057516532
ensemblrs1057516532
gopubmedrs1057516532
geneviewrs1057516532
scholarrs1057516532
googlers1057516532
pharmgkbrs1057516532
gwascentralrs1057516532
openSNPrs1057516532
23andMers1057516532
23andMe allrs1057516532
SNPshotrs1057516532
SNPdbers1057516532
MSV3drs1057516532
GWAS Ctlgrs1057516532
Max Magnitude0
ClinVar
Risk rs1057516532(-;-)
Alt rs1057516532(-;-)
Reference Rs1057516532(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100182326delT
CLNSRC
CLNACC RCV000409989.1,