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rs724159949

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159949(C;T)
Make rs724159949(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37486563
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs724159949
ebirs724159949
HLIrs724159949
Exacrs724159949
Varsomers724159949
Maprs724159949
PheGenIrs724159949
hapmaprs724159949
1000 genomesrs724159949
hgdprs724159949
ensemblrs724159949
gopubmedrs724159949
geneviewrs724159949
scholarrs724159949
googlers724159949
pharmgkbrs724159949
gwascentralrs724159949
openSNPrs724159949
23andMers724159949
23andMe allrs724159949
SNP Nexus

SNPshotrs724159949
SNPdbers724159949
MSV3drs724159949
GWAS Ctlgrs724159949
Max Magnitude0
ClinVar
Risk rs724159949(T;T)
Alt rs724159949(T;T)
Reference rs724159949(C;C)
Significance Pathogenic
Disease Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Mental retardation
Variation info
Gene DYRK1A
CLNDBN Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38858865C>T
CLNSRC UCLA
CLNACC RCV000149559.1, RCV000190478.1, RCV000224593.1,