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rs724159955

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159955(A;A)
Make rs724159955(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37512002
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs724159955
ebirs724159955
HLIrs724159955
Exacrs724159955
Varsomers724159955
Maprs724159955
PheGenIrs724159955
hapmaprs724159955
1000 genomesrs724159955
hgdprs724159955
ensemblrs724159955
gopubmedrs724159955
geneviewrs724159955
scholarrs724159955
googlers724159955
pharmgkbrs724159955
gwascentralrs724159955
openSNPrs724159955
23andMers724159955
23andMe allrs724159955
SNP Nexus

SNPshotrs724159955
SNPdbers724159955
MSV3drs724159955
GWAS Ctlgrs724159955
Max Magnitude0
ClinVar
Risk rs724159955(A;A)
Alt rs724159955(A;A)
Reference rs724159955(C;C)
Significance Probable-Pathogenic
Disease Absent or delayed speech development Deeply set eye Intellectual disability Microcephaly Seizures
Variation info
Gene DYRK1A
CLNDBN Absent or delayed speech development Deeply set eye Intellectual disability Microcephaly Seizures
Reversed 0
HGVS NC_000021.8:g.38884305C>A
CLNSRC
CLNACC RCV000149566.1,