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rs1057519628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519628(-;-)
Make rs1057519628(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position37505534
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs1057519628
dbSNP (old)rs1057519628
ClinGenrs1057519628
ebirs1057519628
HLIrs1057519628
Exacrs1057519628
Gnomadrs1057519628
Varsomers1057519628
Maprs1057519628
PheGenIrs1057519628
Biobankrs1057519628
1000 genomesrs1057519628
hgdprs1057519628
ensemblrs1057519628
gopubmedrs1057519628
geneviewrs1057519628
scholarrs1057519628
googlers1057519628
pharmgkbrs1057519628
gwascentralrs1057519628
openSNPrs1057519628
23andMers1057519628
23andMe allrs1057519628
SNPshotrs1057519628
SNPdbers1057519628
MSV3drs1057519628
GWAS Ctlgrs1057519628
Max Magnitude0
ClinVar
Risk rs1057519628(-;-)
Alt rs1057519628(-;-)
Reference Rs1057519628(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYRK1A
CLNDBN Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38877837delC
CLNSRC
CLNACC RCV000417095.1,