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rs797044523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044523(-;A)
Make rs797044523(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position37480762
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs797044523
ClinGenrs797044523
ebirs797044523
HLIrs797044523
Exacrs797044523
Varsomers797044523
Maprs797044523
PheGenIrs797044523
hapmaprs797044523
1000 genomesrs797044523
hgdprs797044523
ensemblrs797044523
gopubmedrs797044523
geneviewrs797044523
scholarrs797044523
googlers797044523
pharmgkbrs797044523
gwascentralrs797044523
openSNPrs797044523
23andMers797044523
23andMe allrs797044523
SNP Nexus

SNPshotrs797044523
SNPdbers797044523
MSV3drs797044523
GWAS Ctlgrs797044523
Max Magnitude0
ClinVar
Risk rs797044523(A;A)
Alt rs797044523(A;A)
Reference Rs797044523(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38853064dupA
CLNSRC UCLA
CLNACC RCV000190482.1,