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.