rs724159952

Orientation

plus

Stabilized

plus

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

Make rs724159952(-;G)

Make rs724159952(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

37490455

Gene	DYRK1A, LOC105372797

is a	snp
is	mentioned by
dbSNP	rs724159952
dbSNP (classic)	rs724159952
ClinGen	rs724159952
ebi	rs724159952
HLI	rs724159952
Exac	rs724159952
Gnomad	rs724159952
Varsome	rs724159952
LitVar	rs724159952
Map	rs724159952
PheGenI	rs724159952
Biobank	rs724159952
1000 genomes	rs724159952
hgdp	rs724159952
ensembl	rs724159952
geneview	rs724159952
scholar	rs724159952
google	rs724159952
pharmgkb	rs724159952
gwascentral	rs724159952
openSNP	rs724159952
23andMe	rs724159952
SNPshot	rs724159952
SNPdbe	rs724159952
MSV3d	rs724159952
GWAS Ctlg	rs724159952

Max Magnitude

0

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,