rs869320630
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869320630(G;G) |
Make rs869320630(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 18057908 |
Gene | OVOL2 |
is a | snp |
is | mentioned by |
dbSNP | rs869320630 |
dbSNP (classic) | rs869320630 |
ClinGen | rs869320630 |
ebi | rs869320630 |
HLI | rs869320630 |
Exac | rs869320630 |
Gnomad | rs869320630 |
Varsome | rs869320630 |
LitVar | rs869320630 |
Map | rs869320630 |
PheGenI | rs869320630 |
Biobank | rs869320630 |
1000 genomes | rs869320630 |
hgdp | rs869320630 |
ensembl | rs869320630 |
geneview | rs869320630 |
scholar | rs869320630 |
rs869320630 | |
pharmgkb | rs869320630 |
gwascentral | rs869320630 |
openSNP | rs869320630 |
23andMe | rs869320630 |
SNPshot | rs869320630 |
SNPdbe | rs869320630 |
MSV3d | rs869320630 |
GWAS Ctlg | rs869320630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320630(G;G) |
Alt | rs869320630(G;G) |
Reference | Rs869320630(T;T) |
Significance | Pathogenic |
Disease | Posterior polymorphous corneal dystrophy 1 |
Variation | info |
Gene | OVOL2 |
CLNDBN | Posterior polymorphous corneal dystrophy 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.18038552A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210412.1, |