rs60975032
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs60975032(C;T) |
| Make rs60975032(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 16165722 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60975032 |
| dbSNP (classic) | rs60975032 |
| ClinGen | rs60975032 |
| ebi | rs60975032 |
| HLI | rs60975032 |
| Exac | rs60975032 |
| Gnomad | rs60975032 |
| Varsome | rs60975032 |
| LitVar | rs60975032 |
| Map | rs60975032 |
| PheGenI | rs60975032 |
| Biobank | rs60975032 |
| 1000 genomes | rs60975032 |
| hgdp | rs60975032 |
| ensembl | rs60975032 |
| geneview | rs60975032 |
| scholar | rs60975032 |
| rs60975032 | |
| pharmgkb | rs60975032 |
| gwascentral | rs60975032 |
| openSNP | rs60975032 |
| 23andMe | rs60975032 |
| SNPshot | rs60975032 |
| SNPdbe | rs60975032 |
| MSV3d | rs60975032 |
| GWAS Ctlg | rs60975032 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60975032(A;A) rs60975032(T;T) |
| Alt | rs60975032(A;A) rs60975032(T;T) |
| Reference | Rs60975032(C;C) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16259579G>T |
| CLNSRC | |
| CLNACC | |
[PMID 18253096
] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
