rs797044526
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044526(C;T) |
Make rs797044526(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 37490393 |
Gene | DYRK1A, LOC105372797 |
is a | snp |
is | mentioned by |
dbSNP | rs797044526 |
dbSNP (classic) | rs797044526 |
ClinGen | rs797044526 |
ebi | rs797044526 |
HLI | rs797044526 |
Exac | rs797044526 |
Gnomad | rs797044526 |
Varsome | rs797044526 |
LitVar | rs797044526 |
Map | rs797044526 |
PheGenI | rs797044526 |
Biobank | rs797044526 |
1000 genomes | rs797044526 |
hgdp | rs797044526 |
ensembl | rs797044526 |
geneview | rs797044526 |
scholar | rs797044526 |
rs797044526 | |
pharmgkb | rs797044526 |
gwascentral | rs797044526 |
openSNP | rs797044526 |
23andMe | rs797044526 |
SNPshot | rs797044526 |
SNPdbe | rs797044526 |
MSV3d | rs797044526 |
GWAS Ctlg | rs797044526 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044526(T;T) |
Alt | rs797044526(T;T) |
Reference | Rs797044526(C;C) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | DYRK1A |
CLNDBN | Mental retardation, autosomal dominant 7 not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.38862695C>T |
CLNSRC | UCLA |
CLNACC | RCV000190485.1, RCV000255647.1, |