rs63750622
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs63750622(G;T) |
| Make rs63750622(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 16154898 |
| Gene | ABCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750622 |
| dbSNP (classic) | rs63750622 |
| ClinGen | rs63750622 |
| ebi | rs63750622 |
| HLI | rs63750622 |
| Exac | rs63750622 |
| Gnomad | rs63750622 |
| Varsome | rs63750622 |
| LitVar | rs63750622 |
| Map | rs63750622 |
| PheGenI | rs63750622 |
| Biobank | rs63750622 |
| 1000 genomes | rs63750622 |
| hgdp | rs63750622 |
| ensembl | rs63750622 |
| geneview | rs63750622 |
| scholar | rs63750622 |
| rs63750622 | |
| pharmgkb | rs63750622 |
| gwascentral | rs63750622 |
| openSNP | rs63750622 |
| 23andMe | rs63750622 |
| SNPshot | rs63750622 |
| SNPdbe | rs63750622 |
| MSV3d | rs63750622 |
| GWAS Ctlg | rs63750622 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750622(A;A) rs63750622(T;T) |
| Alt | rs63750622(A;A) rs63750622(T;T) |
| Reference | Rs63750622(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ABCC6 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.16248755C>T |
| CLNSRC | |
| CLNACC | RCV000255253.1, |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
[PMID 17617515
] Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
