rs273585618
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs273585618(C;T) |
Make rs273585618(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 88430169 |
Gene | ZNF469 |
is a | snp |
is | mentioned by |
dbSNP | rs273585618 |
dbSNP (classic) | rs273585618 |
ClinGen | rs273585618 |
ebi | rs273585618 |
HLI | rs273585618 |
Exac | rs273585618 |
Gnomad | rs273585618 |
Varsome | rs273585618 |
LitVar | rs273585618 |
Map | rs273585618 |
PheGenI | rs273585618 |
Biobank | rs273585618 |
1000 genomes | rs273585618 |
hgdp | rs273585618 |
ensembl | rs273585618 |
geneview | rs273585618 |
scholar | rs273585618 |
rs273585618 | |
pharmgkb | rs273585618 |
gwascentral | rs273585618 |
openSNP | rs273585618 |
23andMe | rs273585618 |
SNPshot | rs273585618 |
SNPdbe | rs273585618 |
MSV3d | rs273585618 |
GWAS Ctlg | rs273585618 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs273585618(G;G) rs273585618(T;T) |
Alt | rs273585618(G;G) rs273585618(T;T) |
Reference | Rs273585618(C;C) |
Significance | Pathogenic |
Disease | Keratoconus 1 Corneal fragility keratoglobus not provided |
Variation | info |
Gene | ZNF469 |
CLNDBN | Keratoconus 1 Corneal fragility keratoglobus, blue sclerae AND joint hypermobility not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.88496577C>G; NC_000016.9:g.88496577C>T |
CLNSRC | ClinVar |
CLNACC | RCV000114795.1, RCV000114778.1, RCV000371799.1, RCV000490000.1, |