rs273585619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs273585619(A;C) |
Make rs273585619(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 88430589 |
Gene | ZNF469 |
is a | snp |
is | mentioned by |
dbSNP | rs273585619 |
dbSNP (classic) | rs273585619 |
ClinGen | rs273585619 |
ebi | rs273585619 |
HLI | rs273585619 |
Exac | rs273585619 |
Gnomad | rs273585619 |
Varsome | rs273585619 |
LitVar | rs273585619 |
Map | rs273585619 |
PheGenI | rs273585619 |
Biobank | rs273585619 |
1000 genomes | rs273585619 |
hgdp | rs273585619 |
ensembl | rs273585619 |
geneview | rs273585619 |
scholar | rs273585619 |
rs273585619 | |
pharmgkb | rs273585619 |
gwascentral | rs273585619 |
openSNP | rs273585619 |
23andMe | rs273585619 |
SNPshot | rs273585619 |
SNPdbe | rs273585619 |
MSV3d | rs273585619 |
GWAS Ctlg | rs273585619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs273585619(C;C) |
Alt | rs273585619(C;C) |
Reference | Rs273585619(A;A) |
Significance | Pathogenic |
Disease | Keratoconus 1 |
Variation | info |
Gene | ZNF469 |
CLNDBN | Keratoconus 1 |
Reversed | 0 |
HGVS | NC_000016.9:g.88496997A>C |
CLNSRC | ClinVar |
CLNACC | RCV000114780.1, |