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rs797044526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044526(C;T)
Make rs797044526(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position37490393
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs797044526
dbSNP (classic)rs797044526
ClinGenrs797044526
ebirs797044526
HLIrs797044526
Exacrs797044526
Gnomadrs797044526
Varsomers797044526
LitVarrs797044526
Maprs797044526
PheGenIrs797044526
Biobankrs797044526
1000 genomesrs797044526
hgdprs797044526
ensemblrs797044526
geneviewrs797044526
scholarrs797044526
googlers797044526
pharmgkbrs797044526
gwascentralrs797044526
openSNPrs797044526
23andMers797044526
SNPshotrs797044526
SNPdbers797044526
MSV3drs797044526
GWAS Ctlgrs797044526
Max Magnitude0
ClinVar
Risk rs797044526(T;T)
Alt rs797044526(T;T)
Reference Rs797044526(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7 not provided
Reversed 0
HGVS NC_000021.8:g.38862695C>T
CLNSRC UCLA
CLNACC RCV000190485.1, RCV000255647.1,