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rs724159954

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs724159954(-;-)
Make rs724159954(-;A)
Make rs724159954(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37490354
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs724159954
ebirs724159954
HLIrs724159954
Exacrs724159954
Varsomers724159954
Maprs724159954
PheGenIrs724159954
hapmaprs724159954
1000 genomesrs724159954
hgdprs724159954
ensemblrs724159954
gopubmedrs724159954
geneviewrs724159954
scholarrs724159954
googlers724159954
pharmgkbrs724159954
gwascentralrs724159954
openSNPrs724159954
23andMers724159954
23andMe allrs724159954
SNP Nexus

SNPshotrs724159954
SNPdbers724159954
MSV3drs724159954
GWAS Ctlgrs724159954
Max Magnitude0
ClinVar
Risk rs724159954(A;A)
Alt rs724159954(A;A)
Reference rs724159954(;)
Significance Pathogenic
Disease Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures
Variation info
Gene DYRK1A
CLNDBN Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures
Reversed 0
HGVS NC_000021.8:g.38862656dupA
CLNSRC
CLNACC RCV000149565.1,