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rs606231273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231273(C;T)
Make rs606231273(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44951216
GeneSETBP1
is asnp
is mentioned by
dbSNPrs606231273
dbSNP (classic)rs606231273
ClinGenrs606231273
ebirs606231273
HLIrs606231273
Exacrs606231273
Gnomadrs606231273
Varsomers606231273
LitVarrs606231273
Maprs606231273
PheGenIrs606231273
Biobankrs606231273
1000 genomesrs606231273
hgdprs606231273
ensemblrs606231273
geneviewrs606231273
scholarrs606231273
googlers606231273
pharmgkbrs606231273
gwascentralrs606231273
openSNPrs606231273
23andMers606231273
SNPshotrs606231273
SNPdbers606231273
MSV3drs606231273
GWAS Ctlgrs606231273
Max Magnitude0
ClinVar
Risk rs606231273(T;T)
Alt rs606231273(T;T)
Reference Rs606231273(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29 not provided
Reversed 0
HGVS NC_000018.9:g.42531181C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144905.3, RCV000333880.1,