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rs724159953

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159953(C;T)
Make rs724159953(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37505352
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs724159953
ebirs724159953
HLIrs724159953
Exacrs724159953
Varsomers724159953
Maprs724159953
PheGenIrs724159953
hapmaprs724159953
1000 genomesrs724159953
hgdprs724159953
ensemblrs724159953
gopubmedrs724159953
geneviewrs724159953
scholarrs724159953
googlers724159953
pharmgkbrs724159953
gwascentralrs724159953
openSNPrs724159953
23andMers724159953
23andMe allrs724159953
SNP Nexus

SNPshotrs724159953
SNPdbers724159953
MSV3drs724159953
GWAS Ctlgrs724159953
Max Magnitude0
ClinVar
Risk rs724159953(T;T)
Alt rs724159953(T;T)
Reference rs724159953(C;C)
Significance Pathogenic
Disease Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures Mental retardation
Variation info
Gene DYRK1A
CLNDBN Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures Mental retardation, autosomal dominant 7
Reversed 0
HGVS NC_000021.8:g.38877655C>T
CLNSRC
CLNACC RCV000149564.1, RCV000193013.1,