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rs587776930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776930(A;A)
Make rs587776930(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position37493164
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs587776930
dbSNP (classic)rs587776930
ClinGenrs587776930
ebirs587776930
HLIrs587776930
Exacrs587776930
Gnomadrs587776930
Varsomers587776930
LitVarrs587776930
Maprs587776930
PheGenIrs587776930
Biobankrs587776930
1000 genomesrs587776930
hgdprs587776930
ensemblrs587776930
geneviewrs587776930
scholarrs587776930
googlers587776930
pharmgkbrs587776930
gwascentralrs587776930
openSNPrs587776930
23andMers587776930
SNPshotrs587776930
SNPdbers587776930
MSV3drs587776930
GWAS Ctlgrs587776930
Max Magnitude0
ClinVar
Risk rs587776930(A;A)
Alt rs587776930(A;A)
Reference Rs587776930(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38865466G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032823.3,