rs67561842
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs67561842(A;A) |
| Make rs67561842(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16178919 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67561842 |
| dbSNP (classic) | rs67561842 |
| ClinGen | rs67561842 |
| ebi | rs67561842 |
| HLI | rs67561842 |
| Exac | rs67561842 |
| Gnomad | rs67561842 |
| Varsome | rs67561842 |
| LitVar | rs67561842 |
| Map | rs67561842 |
| PheGenI | rs67561842 |
| Biobank | rs67561842 |
| 1000 genomes | rs67561842 |
| hgdp | rs67561842 |
| ensembl | rs67561842 |
| geneview | rs67561842 |
| scholar | rs67561842 |
| rs67561842 | |
| pharmgkb | rs67561842 |
| gwascentral | rs67561842 |
| openSNP | rs67561842 |
| 23andMe | rs67561842 |
| SNPshot | rs67561842 |
| SNPdbe | rs67561842 |
| MSV3d | rs67561842 |
| GWAS Ctlg | rs67561842 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67561842(A;A) rs67561842(T;T) |
| Alt | rs67561842(A;A) rs67561842(T;T) |
| Reference | Rs67561842(G;G) |
| Significance | Pathogenic |
| Disease | Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16272776C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023275.3, RCV000023276.3, |
[PMID 11536079
] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
