rs587776929
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs587776929(-;-) |
Make rs587776929(-;AT) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 37472815 |
Gene | DYRK1A |
is a | snp |
is | mentioned by |
dbSNP | rs587776929 |
dbSNP (classic) | rs587776929 |
ClinGen | rs587776929 |
ebi | rs587776929 |
HLI | rs587776929 |
Exac | rs587776929 |
Gnomad | rs587776929 |
Varsome | rs587776929 |
LitVar | rs587776929 |
Map | rs587776929 |
PheGenI | rs587776929 |
Biobank | rs587776929 |
1000 genomes | rs587776929 |
hgdp | rs587776929 |
ensembl | rs587776929 |
geneview | rs587776929 |
scholar | rs587776929 |
rs587776929 | |
pharmgkb | rs587776929 |
gwascentral | rs587776929 |
openSNP | rs587776929 |
23andMe | rs587776929 |
SNPshot | rs587776929 |
SNPdbe | rs587776929 |
MSV3d | rs587776929 |
GWAS Ctlg | rs587776929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776929(-;-) |
Alt | rs587776929(-;-) |
Reference | Rs587776929(AT;AT) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYRK1A |
CLNDBN | Mental retardation, autosomal dominant 7 |
Reversed | 0 |
HGVS | NC_000021.8:g.38845117_38845118delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032822.4, |