rs797045540
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045540(G;G) |
Make rs797045540(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 37490432 |
Gene | DYRK1A, LOC105372797 |
is a | snp |
is | mentioned by |
dbSNP | rs797045540 |
dbSNP (classic) | rs797045540 |
ClinGen | rs797045540 |
ebi | rs797045540 |
HLI | rs797045540 |
Exac | rs797045540 |
Gnomad | rs797045540 |
Varsome | rs797045540 |
LitVar | rs797045540 |
Map | rs797045540 |
PheGenI | rs797045540 |
Biobank | rs797045540 |
1000 genomes | rs797045540 |
hgdp | rs797045540 |
ensembl | rs797045540 |
geneview | rs797045540 |
scholar | rs797045540 |
rs797045540 | |
pharmgkb | rs797045540 |
gwascentral | rs797045540 |
openSNP | rs797045540 |
23andMe | rs797045540 |
SNPshot | rs797045540 |
SNPdbe | rs797045540 |
MSV3d | rs797045540 |
GWAS Ctlg | rs797045540 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045540(G;G) |
Alt | rs797045540(G;G) |
Reference | Rs797045540(T;T) |
Significance | Probable-Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | DYRK1A |
CLNDBN | Mental retardation, autosomal dominant 7 |
Reversed | 0 |
HGVS | NC_000021.8:g.38862734T>G |
CLNSRC | |
CLNACC | RCV000192601.1, |