rs17612648
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs17612648(C;G) |
| Make rs17612648(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 198696788 |
| Gene | PTPRC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17612648 |
| dbSNP (classic) | rs17612648 |
| ClinGen | rs17612648 |
| ebi | rs17612648 |
| HLI | rs17612648 |
| Exac | rs17612648 |
| Gnomad | rs17612648 |
| Varsome | rs17612648 |
| LitVar | rs17612648 |
| Map | rs17612648 |
| PheGenI | rs17612648 |
| Biobank | rs17612648 |
| 1000 genomes | rs17612648 |
| hgdp | rs17612648 |
| ensembl | rs17612648 |
| geneview | rs17612648 |
| scholar | rs17612648 |
| rs17612648 | |
| pharmgkb | rs17612648 |
| gwascentral | rs17612648 |
| openSNP | rs17612648 |
| 23andMe | rs17612648 |
| SNPshot | rs17612648 |
| SNPdbe | rs17612648 |
| MSV3d | rs17612648 |
| GWAS Ctlg | rs17612648 |
| GMAF | 0.007346 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19879912] No association between transmembrane protein-tyrosine-phosphatase receptor type C (CD45) exon A 77C>G transversion and Hashimoto's thyroiditis in a German population
[PMID 21067564
] The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity
[PMID 16400609
] Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.
[PMID 18634151] No association between systemic sclerosis and C77G polymorphism in the human PTPRC (CD45) gene.
[PMID 20158892
] Genomic features defining exonic variants that modulate splicing.
[PMID 22524693] No association between transmembrane protein-tyrosine phosphatase receptor type C (PTPRC) exon A 77C>G transversion and liver transplant rejection.
| ClinVar | |
|---|---|
| Risk | rs17612648(G;G) rs17612648(T;T) |
| Alt | rs17612648(G;G) rs17612648(T;T) |
| Reference | Rs17612648(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | PTPRC |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.198665917C>G |
| CLNSRC | |
| CLNACC | RCV000429422.1, |
[PMID 28759630
] C77G in PTPRC (CD45) is no risk allele for ovarian cancer, but associated with less aggressive disease.
