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rs606231270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231270(C;G)
Make rs606231270(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44952372
GeneSETBP1
is asnp
is mentioned by
dbSNPrs606231270
dbSNP (classic)rs606231270
ClinGenrs606231270
ebirs606231270
HLIrs606231270
Exacrs606231270
Gnomadrs606231270
Varsomers606231270
LitVarrs606231270
Maprs606231270
PheGenIrs606231270
Biobankrs606231270
1000 genomesrs606231270
hgdprs606231270
ensemblrs606231270
geneviewrs606231270
scholarrs606231270
googlers606231270
pharmgkbrs606231270
gwascentralrs606231270
openSNPrs606231270
23andMers606231270
SNPshotrs606231270
SNPdbers606231270
MSV3drs606231270
GWAS Ctlgrs606231270
Max Magnitude0
ClinVar
Risk rs606231270(G;G)
Alt rs606231270(G;G)
Reference Rs606231270(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42532337C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144902.3,