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rs17612648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs17612648(C;G)
Make rs17612648(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position198696788
GenePTPRC
is asnp
is mentioned by
dbSNPrs17612648
dbSNP (old)rs17612648
ClinGenrs17612648
ebirs17612648
HLIrs17612648
Exacrs17612648
Varsomers17612648
Maprs17612648
PheGenIrs17612648
Biobankrs17612648
1000 genomesrs17612648
hgdprs17612648
ensemblrs17612648
gopubmedrs17612648
geneviewrs17612648
scholarrs17612648
googlers17612648
pharmgkbrs17612648
gwascentralrs17612648
openSNPrs17612648
23andMers17612648
23andMe allrs17612648
SNP Nexus

SNPshotrs17612648
SNPdbers17612648
MSV3drs17612648
GWAS Ctlgrs17612648
GMAF0.007346
Max Magnitude0
? (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 21067564OA-icon.png] The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity

[PMID 16400609OA-icon.png] 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 20158892OA-icon.png] 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 28759630OA-icon.png] C77G in PTPRC (CD45) is no risk allele for ovarian cancer, but associated with less aggressive disease.