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rs724159950

From SNPedia

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Geno Mag Summary
(TGAG;TGAG) 0 common in clinvar
Make rs724159950(GAA;GAA)
Make rs724159950(GAA;TGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37486571
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs724159950
ebirs724159950
HLIrs724159950
Exacrs724159950
Varsomers724159950
Maprs724159950
PheGenIrs724159950
hapmaprs724159950
1000 genomesrs724159950
hgdprs724159950
ensemblrs724159950
gopubmedrs724159950
geneviewrs724159950
scholarrs724159950
googlers724159950
pharmgkbrs724159950
gwascentralrs724159950
openSNPrs724159950
23andMers724159950
23andMe allrs724159950
SNP Nexus

SNPshotrs724159950
SNPdbers724159950
MSV3drs724159950
GWAS Ctlgrs724159950
Max Magnitude0
ClinVar
Risk rs724159950(GAA;GAA)
Alt rs724159950(GAA;GAA)
Reference rs724159950(TGAG;TGAG)
Significance Pathogenic
Disease Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly
Variation info
Gene DYRK1A
CLNDBN Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly
Reversed 0
HGVS NC_000021.8:g.38858873_38858876delTGAGinsGAA
CLNSRC
CLNACC RCV000149560.1, RCV000224418.1,