rs72664283
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs72664283(A;G) |
| Make rs72664283(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 16202100 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72664283 |
| dbSNP (classic) | rs72664283 |
| ClinGen | rs72664283 |
| ebi | rs72664283 |
| HLI | rs72664283 |
| Exac | rs72664283 |
| Gnomad | rs72664283 |
| Varsome | rs72664283 |
| LitVar | rs72664283 |
| Map | rs72664283 |
| PheGenI | rs72664283 |
| Biobank | rs72664283 |
| 1000 genomes | rs72664283 |
| hgdp | rs72664283 |
| ensembl | rs72664283 |
| geneview | rs72664283 |
| scholar | rs72664283 |
| rs72664283 | |
| pharmgkb | rs72664283 |
| gwascentral | rs72664283 |
| openSNP | rs72664283 |
| 23andMe | rs72664283 |
| SNPshot | rs72664283 |
| SNPdbe | rs72664283 |
| MSV3d | rs72664283 |
| GWAS Ctlg | rs72664283 |
| GMAF | 0.01607 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72664283(C;C) rs72664283(G;G) |
| Alt | rs72664283(C;C) rs72664283(G;G) |
| Reference | Rs72664283(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16295957T>C; NC_000016.9:g.16295957T>G |
| CLNSRC | |
| CLNACC | RCV000428599.1, RCV000444897.1, |
[PMID 11692167] A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
