Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs2476601

Hard Link
rs2476601 is a snp on gene PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

GenePTPN22 Chromosome number 1 Chromosome position 113834946
Alleles A/G Minor Allele A Minor Allele Frequency 0.0274
Notation R620W, VNTR Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
VNTR is an indication of the number of repeated DNA segments of that gene that can be methylated during oxidative stress involving gene silencing i.e. down regulating gene expression or deacetylated, upregulating gene expression. [http://dx.doi.org/10.1016/j.ygeno.2013.03.003 PMID: 23517681 DOI: 10.1016/j.ygeno.2013.03.003]
Gene Function
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
GWAS Pathologies
Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (A) ~ Rheumatoid arthritis (A) ~ Myasthenia gravis (A) ~ Myasthenia gravis (A) ~ Type 1 diabetes autoantibodies (A) ~ Type 1 diabetes autoantibodies (A) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Crohn's disease (G) ~ Crohn's disease (G) ~ Rheumatoid arthritis (A) ~ Rheumatoid arthritis (A) ~ Vitiligo (A) ~ Vitiligo (A) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Type 1 diabetes (?) ~ Type 1 diabetes (?) ~ Crohn's disease (G) ~ Crohn's disease (G) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Type 1 diabetes (A) ~ Type 1 diabetes (A) ~ Type 1 diabetes (T) ~ Type 1 diabetes (T)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





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