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rs724159951

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs724159951(C;C)
Make rs724159951(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37493101
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs724159951
ebirs724159951
HLIrs724159951
Exacrs724159951
Varsomers724159951
Maprs724159951
PheGenIrs724159951
hapmaprs724159951
1000 genomesrs724159951
hgdprs724159951
ensemblrs724159951
gopubmedrs724159951
geneviewrs724159951
scholarrs724159951
googlers724159951
pharmgkbrs724159951
gwascentralrs724159951
openSNPrs724159951
23andMers724159951
23andMe allrs724159951
SNP Nexus

SNPshotrs724159951
SNPdbers724159951
MSV3drs724159951
GWAS Ctlgrs724159951
Max Magnitude0
ClinVar
Risk rs724159951(C;C)
Alt rs724159951(C;C)
Reference rs724159951(T;T)
Significance Probable-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.38865403T>C
CLNSRC
CLNACC RCV000149561.1,