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rs1057519594

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519594(-;T)
Make rs1057519594(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position44951356
GeneSETBP1
is asnp
is mentioned by
dbSNPrs1057519594
dbSNP (old)rs1057519594
ClinGenrs1057519594
ebirs1057519594
HLIrs1057519594
Exacrs1057519594
Gnomadrs1057519594
Varsomers1057519594
Maprs1057519594
PheGenIrs1057519594
Biobankrs1057519594
1000 genomesrs1057519594
hgdprs1057519594
ensemblrs1057519594
gopubmedrs1057519594
geneviewrs1057519594
scholarrs1057519594
googlers1057519594
pharmgkbrs1057519594
gwascentralrs1057519594
openSNPrs1057519594
23andMers1057519594
23andMe allrs1057519594
SNPshotrs1057519594
SNPdbers1057519594
MSV3drs1057519594
GWAS Ctlgrs1057519594
Max Magnitude0
ClinVar
Risk rs1057519594(T;T)
Alt rs1057519594(T;T)
Reference Rs1057519594(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42531321_42531322insT
CLNSRC
CLNACC RCV000417091.1,