rs11543934
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs11543934(A;A) |
| Make rs11543934(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 16138117 |
| Gene | EPHA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11543934 |
| dbSNP (classic) | rs11543934 |
| ClinGen | rs11543934 |
| ebi | rs11543934 |
| HLI | rs11543934 |
| Exac | rs11543934 |
| Gnomad | rs11543934 |
| Varsome | rs11543934 |
| LitVar | rs11543934 |
| Map | rs11543934 |
| PheGenI | rs11543934 |
| Biobank | rs11543934 |
| 1000 genomes | rs11543934 |
| hgdp | rs11543934 |
| ensembl | rs11543934 |
| geneview | rs11543934 |
| scholar | rs11543934 |
| rs11543934 | |
| pharmgkb | rs11543934 |
| gwascentral | rs11543934 |
| openSNP | rs11543934 |
| 23andMe | rs11543934 |
| SNPshot | rs11543934 |
| SNPdbe | rs11543934 |
| MSV3d | rs11543934 |
| GWAS Ctlg | rs11543934 |
| Max Magnitude | 0 |
[PMID 22829731
] Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation
| ClinVar | |
|---|---|
| Risk | rs11543934(A;A) |
| Alt | rs11543934(A;A) |
| Reference | Rs11543934(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Age-related cortical cataract |
| Variation | info |
| Gene | EPHA2 |
| CLNDBN | Age-related cortical cataract |
| Reversed | 1 |
| HGVS | NC_000001.10:g.16464612G>T |
| CLNSRC | |
| CLNACC | RCV000340843.1, |
