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rs724159956

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs724159956(-;-)
Make rs724159956(-;G)
Make rs724159956(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position37496251
GeneDYRK1A
is asnp
is mentioned by
dbSNPrs724159956
ebirs724159956
HLIrs724159956
Exacrs724159956
Varsomers724159956
Maprs724159956
PheGenIrs724159956
hapmaprs724159956
1000 genomesrs724159956
hgdprs724159956
ensemblrs724159956
gopubmedrs724159956
geneviewrs724159956
scholarrs724159956
googlers724159956
pharmgkbrs724159956
gwascentralrs724159956
openSNPrs724159956
23andMers724159956
23andMe allrs724159956
SNP Nexus

SNPshotrs724159956
SNPdbers724159956
MSV3drs724159956
GWAS Ctlgrs724159956
Max Magnitude0
ClinVar
Risk rs724159956(G;G)
Alt rs724159956(G;G)
Reference rs724159956(;)
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.38868553dupG
CLNSRC
CLNACC RCV000149567.1,