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rs606231271

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231271(-;-)
Make rs606231271(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44701773
GeneSETBP1
is asnp
is mentioned by
dbSNPrs606231271
ebirs606231271
HLIrs606231271
Exacrs606231271
Varsomers606231271
Maprs606231271
PheGenIrs606231271
hapmaprs606231271
1000 genomesrs606231271
hgdprs606231271
ensemblrs606231271
gopubmedrs606231271
geneviewrs606231271
scholarrs606231271
googlers606231271
pharmgkbrs606231271
gwascentralrs606231271
openSNPrs606231271
23andMers606231271
23andMe allrs606231271
SNP Nexus

SNPshotrs606231271
SNPdbers606231271
MSV3drs606231271
GWAS Ctlgrs606231271
Max Magnitude0
ClinVar
Risk rs606231271(;)
Alt rs606231271(;)
Reference rs606231271(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42281738delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144903.3,