View genomic variant #0000001023

Chromosome 1
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change g.114377568_114377569del
DB-ID PTPN22_000001
Gene PTPN22
dbSNP ID rs2476601
Risk allele A;T;T;T;T;T;T;T
Population EUROPEAN; EUROPEAN; MULTIPLE POPULATIONS(META-ANALYSIS); MULTIPLE POPULATIONS(META-ANALYSIS); ROMANIAN; CAUCASIAN/EUROPEAN; MEXICAN; EUROPEAN; ASIAN, EUROPEAN, MEXICAN
Pubmed Reference Jin et al.(2010);Cantón et al.(2005);Song et al.(2013);Zheng et al.(2012);Laberge et al.(2008);LaBerge et al.(2008);Garcia et al.(2014);Jin et al(2016);Silky et al.(2017);
IGV NA
1000G 0.027356
gnomAD 0.0813
ExAC 0.0668
GTEx View in GTEx
Variant remarks GWAS,CANDIDATE
Average frequency (large NGS studies) Variant not found in online data sets
Owner IGIB




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTPN22 NM_015967.5 ./. - c.1857_1858del r.(?) p.(Trp620Aspfs*3)