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rs797044524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044524(A;T)
Make rs797044524(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position37486513
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs797044524
dbSNP (classic)rs797044524
ClinGenrs797044524
ebirs797044524
HLIrs797044524
Exacrs797044524
Gnomadrs797044524
Varsomers797044524
LitVarrs797044524
Maprs797044524
PheGenIrs797044524
Biobankrs797044524
1000 genomesrs797044524
hgdprs797044524
ensemblrs797044524
geneviewrs797044524
scholarrs797044524
googlers797044524
pharmgkbrs797044524
gwascentralrs797044524
openSNPrs797044524
23andMers797044524
SNPshotrs797044524
SNPdbers797044524
MSV3drs797044524
GWAS Ctlgrs797044524
Max Magnitude0
ClinVar
Risk rs797044524(T;T)
Alt rs797044524(T;T)
Reference Rs797044524(A;A)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38858815A>T
CLNSRC UCLA
CLNACC RCV000190483.1,