rs273585630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs273585630(C;T) |
Make rs273585630(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 88439169 |
Gene | ZNF469 |
is a | snp |
is | mentioned by |
dbSNP | rs273585630 |
dbSNP (classic) | rs273585630 |
ClinGen | rs273585630 |
ebi | rs273585630 |
HLI | rs273585630 |
Exac | rs273585630 |
Gnomad | rs273585630 |
Varsome | rs273585630 |
LitVar | rs273585630 |
Map | rs273585630 |
PheGenI | rs273585630 |
Biobank | rs273585630 |
1000 genomes | rs273585630 |
hgdp | rs273585630 |
ensembl | rs273585630 |
geneview | rs273585630 |
scholar | rs273585630 |
rs273585630 | |
pharmgkb | rs273585630 |
gwascentral | rs273585630 |
openSNP | rs273585630 |
23andMe | rs273585630 |
SNPshot | rs273585630 |
SNPdbe | rs273585630 |
MSV3d | rs273585630 |
GWAS Ctlg | rs273585630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs273585630(G;G) rs273585630(T;T) |
Alt | rs273585630(G;G) rs273585630(T;T) |
Reference | Rs273585630(C;C) |
Significance | Pathogenic |
Disease | Keratoconus 1 |
Variation | info |
Gene | ZNF469 |
CLNDBN | Keratoconus 1 |
Reversed | 0 |
HGVS | NC_000016.9:g.88505577C>T |
CLNSRC | ClinVar |
CLNACC | RCV000114775.1, |