rs797044523
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044523(-;A) |
Make rs797044523(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 37480762 |
Gene | DYRK1A, LOC105372797 |
is a | snp |
is | mentioned by |
dbSNP | rs797044523 |
dbSNP (classic) | rs797044523 |
ClinGen | rs797044523 |
ebi | rs797044523 |
HLI | rs797044523 |
Exac | rs797044523 |
Gnomad | rs797044523 |
Varsome | rs797044523 |
LitVar | rs797044523 |
Map | rs797044523 |
PheGenI | rs797044523 |
Biobank | rs797044523 |
1000 genomes | rs797044523 |
hgdp | rs797044523 |
ensembl | rs797044523 |
geneview | rs797044523 |
scholar | rs797044523 |
rs797044523 | |
pharmgkb | rs797044523 |
gwascentral | rs797044523 |
openSNP | rs797044523 |
23andMe | rs797044523 |
SNPshot | rs797044523 |
SNPdbe | rs797044523 |
MSV3d | rs797044523 |
GWAS Ctlg | rs797044523 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044523(A;A) |
Alt | rs797044523(A;A) |
Reference | Rs797044523(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYRK1A |
CLNDBN | Mental retardation, autosomal dominant 7 |
Reversed | 0 |
HGVS | NC_000021.8:g.38853064dupA |
CLNSRC | UCLA |
CLNACC | RCV000190482.1, |