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rs724159952

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs724159952(-;-)
Make rs724159952(-;G)
Make rs724159952(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37490455
GeneDYRK1A, LOC105372797
is asnp
is mentioned by
dbSNPrs724159952
ebirs724159952
HLIrs724159952
Exacrs724159952
Varsomers724159952
Maprs724159952
PheGenIrs724159952
hapmaprs724159952
1000 genomesrs724159952
hgdprs724159952
ensemblrs724159952
gopubmedrs724159952
geneviewrs724159952
scholarrs724159952
googlers724159952
pharmgkbrs724159952
gwascentralrs724159952
openSNPrs724159952
23andMers724159952
23andMe allrs724159952
SNP Nexus

SNPshotrs724159952
SNPdbers724159952
MSV3drs724159952
GWAS Ctlgrs724159952
Max Magnitude0
ClinVar
Risk rs724159952(G;G)
Alt rs724159952(G;G)
Reference rs724159952(;)
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.38862757dupG
CLNSRC
CLNACC RCV000149562.1,