rs724159953

Orientation

plus

Stabilized

plus

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

Make rs724159953(C;T)

Make rs724159953(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

37505352

Gene

DYRK1A

is a	snp
is	mentioned by
dbSNP	rs724159953
dbSNP (classic)	rs724159953
ClinGen	rs724159953
ebi	rs724159953
HLI	rs724159953
Exac	rs724159953
Gnomad	rs724159953
Varsome	rs724159953
LitVar	rs724159953
Map	rs724159953
PheGenI	rs724159953
Biobank	rs724159953
1000 genomes	rs724159953
hgdp	rs724159953
ensembl	rs724159953
geneview	rs724159953
scholar	rs724159953
google	rs724159953
pharmgkb	rs724159953
gwascentral	rs724159953
openSNP	rs724159953
23andMe	rs724159953
SNPshot	rs724159953
SNPdbe	rs724159953
MSV3d	rs724159953
GWAS Ctlg	rs724159953

Max Magnitude

0

ClinVar
Risk	rs724159953(T;T)
Alt	rs724159953(T;T)
Reference	Rs724159953(C;C)
Significance	Pathogenic
Disease	Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures Mental retardation not provided
Variation	info
Gene	DYRK1A
CLNDBN	Absent or delayed speech development Deeply set eye Feeding difficulties Intellectual disability Microcephaly Seizures Mental retardation, autosomal dominant 7 not provided
Reversed	0
HGVS	NC_000021.8:g.38877655C>T
CLNSRC
CLNACC	RCV000149564.1, RCV000193013.1, RCV000413642.1,