rs1043424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1043424(A;C) |
| Make rs1043424(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 20650507 |
| Gene | PINK1, PINK1-AS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1043424 |
| dbSNP (classic) | rs1043424 |
| ClinGen | rs1043424 |
| ebi | rs1043424 |
| HLI | rs1043424 |
| Exac | rs1043424 |
| Gnomad | rs1043424 |
| Varsome | rs1043424 |
| LitVar | rs1043424 |
| Map | rs1043424 |
| PheGenI | rs1043424 |
| Biobank | rs1043424 |
| 1000 genomes | rs1043424 |
| hgdp | rs1043424 |
| ensembl | rs1043424 |
| geneview | rs1043424 |
| scholar | rs1043424 |
| rs1043424 | |
| pharmgkb | rs1043424 |
| gwascentral | rs1043424 |
| openSNP | rs1043424 |
| 23andMe | rs1043424 |
| SNPshot | rs1043424 |
| SNPdbe | rs1043424 |
| MSV3d | rs1043424 |
| GWAS Ctlg | rs1043424 |
| GMAF | 0.2805 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 18778477
] Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
| ClinVar | |
|---|---|
| Risk | rs1043424(C;C) |
| Alt | rs1043424(C;C) |
| Reference | Rs1043424(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Congenital disorder of glycosylation Parkinson Disease |
| Variation | info |
| Gene | PINK1-AS PINK1 |
| CLNDBN | Congenital disorder of glycosylation Parkinson Disease, Recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.20977000A>C |
| CLNSRC | |
| CLNACC | RCV000362537.1, RCV000408170.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 1
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d
