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rs797045042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045042(-;G)
Make rs797045042(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position37496181
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs797045042
dbSNP (classic)rs797045042
ClinGenrs797045042
ebirs797045042
HLIrs797045042
Exacrs797045042
Gnomadrs797045042
Varsomers797045042
LitVarrs797045042
Maprs797045042
PheGenIrs797045042
Biobankrs797045042
1000 genomesrs797045042
hgdprs797045042
ensemblrs797045042
geneviewrs797045042
scholarrs797045042
googlers797045042
pharmgkbrs797045042
gwascentralrs797045042
openSNPrs797045042
23andMers797045042
SNPshotrs797045042
SNPdbers797045042
MSV3drs797045042
GWAS Ctlgrs797045042
Max Magnitude0
ClinVar
Risk rs797045042(G;G)
Alt rs797045042(G;G)
Reference Rs797045042(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38868483dupG
CLNSRC Baylor College of Medicine
CLNACC RCV000191082.1,