rs724159955

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs724159955(A;A)

Make rs724159955(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

37512002

Gene

DYRK1A

is a	snp
is	mentioned by
dbSNP	rs724159955
dbSNP (classic)	rs724159955
ClinGen	rs724159955
ebi	rs724159955
HLI	rs724159955
Exac	rs724159955
Gnomad	rs724159955
Varsome	rs724159955
LitVar	rs724159955
Map	rs724159955
PheGenI	rs724159955
Biobank	rs724159955
1000 genomes	rs724159955
hgdp	rs724159955
ensembl	rs724159955
geneview	rs724159955
scholar	rs724159955
google	rs724159955
pharmgkb	rs724159955
gwascentral	rs724159955
openSNP	rs724159955
23andMe	rs724159955
SNPshot	rs724159955
SNPdbe	rs724159955
MSV3d	rs724159955
GWAS Ctlg	rs724159955

Max Magnitude

0

ClinVar
Risk	rs724159955(A;A)
Alt	rs724159955(A;A)
Reference	Rs724159955(C;C)
Significance	Probable-Pathogenic
Disease	Absent or delayed speech development Deeply set eye Intellectual disability Microcephaly Seizures
Variation	info
Gene	DYRK1A
CLNDBN	Absent or delayed speech development Deeply set eye Intellectual disability Microcephaly Seizures
Reversed	0
HGVS	NC_000021.8:g.38884305C>A
CLNSRC
CLNACC	RCV000149566.1,