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rs797044520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044520(C;T)
Make rs797044520(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position37505442
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs797044520
dbSNP (classic)rs797044520
ClinGenrs797044520
ebirs797044520
HLIrs797044520
Exacrs797044520
Gnomadrs797044520
Varsomers797044520
LitVarrs797044520
Maprs797044520
PheGenIrs797044520
Biobankrs797044520
1000 genomesrs797044520
hgdprs797044520
ensemblrs797044520
geneviewrs797044520
scholarrs797044520
googlers797044520
pharmgkbrs797044520
gwascentralrs797044520
openSNPrs797044520
23andMers797044520
SNPshotrs797044520
SNPdbers797044520
MSV3drs797044520
GWAS Ctlgrs797044520
Max Magnitude0
ClinVar
Risk rs797044520(T;T)
Alt rs797044520(T;T)
Reference Rs797044520(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38877745C>T
CLNSRC Baylor College of Medicine UCLA
CLNACC RCV000190479.2,