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rs724159948

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159948(C;T)
Make rs724159948(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37490273
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs724159948
ebirs724159948
HLIrs724159948
Exacrs724159948
Varsomers724159948
Maprs724159948
PheGenIrs724159948
hapmaprs724159948
1000 genomesrs724159948
hgdprs724159948
ensemblrs724159948
gopubmedrs724159948
geneviewrs724159948
scholarrs724159948
googlers724159948
pharmgkbrs724159948
gwascentralrs724159948
openSNPrs724159948
23andMers724159948
23andMe allrs724159948
SNP Nexus

SNPshotrs724159948
SNPdbers724159948
MSV3drs724159948
GWAS Ctlgrs724159948
Max Magnitude0
ClinVar
Risk rs724159948(T;T)
Alt rs724159948(T;T)
Reference rs724159948(C;C)
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.38862575C>T
CLNSRC
CLNACC RCV000149558.1,