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rs1057516030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516030(-;A)
Make rs1057516030(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position37480786
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs1057516030
dbSNP (classic)rs1057516030
ClinGenrs1057516030
ebirs1057516030
HLIrs1057516030
Exacrs1057516030
Gnomadrs1057516030
Varsomers1057516030
LitVarrs1057516030
Maprs1057516030
PheGenIrs1057516030
Biobankrs1057516030
1000 genomesrs1057516030
hgdprs1057516030
ensemblrs1057516030
geneviewrs1057516030
scholarrs1057516030
googlers1057516030
pharmgkbrs1057516030
gwascentralrs1057516030
openSNPrs1057516030
23andMers1057516030
SNPshotrs1057516030
SNPdbers1057516030
MSV3drs1057516030
GWAS Ctlgrs1057516030
Max Magnitude0
ClinVar
Risk rs1057516030(A;A)
Alt rs1057516030(A;A)
Reference Rs1057516030(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38853088dupA
CLNSRC
CLNACC RCV000408621.1,