Table 3 Reference data for extended analysis

 

Type

Reference database

Association between variant and disease

GWAS catalog(11); CNVD(12)

Association between variant and mRNA abundance

seeQTL(13); SCAN(14); NCBI eQTL browser (15); http://eqtl.uchicago.edu/cgi-bin/gbrowse/eqtl/(16-22); RTeQTL database (23); BrainEAC (24); skin eQTL database(25); GTEx Portal(26)

Linkage disequilibrium (LD) correlations between SNPs

International HapMap Consortium(27,28) ; MaCH(29)