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rs606231272

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231272(C;T)
Make rs606231272(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44951213
GeneSETBP1
is asnp
is mentioned by
dbSNPrs606231272
ebirs606231272
HLIrs606231272
Exacrs606231272
Varsomers606231272
Maprs606231272
PheGenIrs606231272
hapmaprs606231272
1000 genomesrs606231272
hgdprs606231272
ensemblrs606231272
gopubmedrs606231272
geneviewrs606231272
scholarrs606231272
googlers606231272
pharmgkbrs606231272
gwascentralrs606231272
openSNPrs606231272
23andMers606231272
23andMe allrs606231272
SNP Nexus

SNPshotrs606231272
SNPdbers606231272
MSV3drs606231272
GWAS Ctlgrs606231272
Max Magnitude0
ClinVar
Risk rs606231272(T;T)
Alt rs606231272(T;T)
Reference rs606231272(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42531178C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144904.3,