Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231269(-;-)
Make rs606231269(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44951804
GeneSETBP1
is asnp
is mentioned by
dbSNPrs606231269
ClinGenrs606231269
ebirs606231269
HLIrs606231269
Exacrs606231269
Varsomers606231269
Maprs606231269
PheGenIrs606231269
hapmaprs606231269
1000 genomesrs606231269
hgdprs606231269
ensemblrs606231269
gopubmedrs606231269
geneviewrs606231269
scholarrs606231269
googlers606231269
pharmgkbrs606231269
gwascentralrs606231269
openSNPrs606231269
23andMers606231269
23andMe allrs606231269
SNP Nexus

SNPshotrs606231269
SNPdbers606231269
MSV3drs606231269
GWAS Ctlgrs606231269
Max Magnitude0
ClinVar
Risk rs606231269(-;-)
Alt rs606231269(-;-)
Reference Rs606231269(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42531769delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144900.3,