rs724159948

Orientation

plus

Stabilized

plus

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

Make rs724159948(C;T)

Make rs724159948(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

37490273

Gene	DYRK1A, LOC105372797

is a	snp
is	mentioned by
dbSNP	rs724159948
dbSNP (classic)	rs724159948
ClinGen	rs724159948
ebi	rs724159948
HLI	rs724159948
Exac	rs724159948
Gnomad	rs724159948
Varsome	rs724159948
LitVar	rs724159948
Map	rs724159948
PheGenI	rs724159948
Biobank	rs724159948
1000 genomes	rs724159948
hgdp	rs724159948
ensembl	rs724159948
geneview	rs724159948
scholar	rs724159948
google	rs724159948
pharmgkb	rs724159948
gwascentral	rs724159948
openSNP	rs724159948
23andMe	rs724159948
SNPshot	rs724159948
SNPdbe	rs724159948
MSV3d	rs724159948
GWAS Ctlg	rs724159948

Max Magnitude

0

ClinVar
Risk	rs724159948(T;T)
Alt	rs724159948(T;T)
Reference	Rs724159948(C;C)
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.38862575C>T
CLNSRC
CLNACC	RCV000149558.1,