Table 1.
Functional annotation of 258,113 unique cis sQTLs obtained from a total of 572,333 cis sQTLs
SNP functional class | Count | Proportion |
---|---|---|
Intronic | 150,440 | 0.58 |
Intergenic | 81,370 | 0.32 |
5′ near gene | 10,795 | 0.04 |
3′ near gene | 2,251 | 0.01 |
5′ UTR | 1,233 | 0.005 |
3′ UTR | 5,908 | 0.02 |
Synonymous | 2,926 | 0.01 |
Missense | 2,235 | 0.01 |
Noncoding RNA | 909 | 0.004 |
5′ splice site | 20 | 7.75 × 10−5 |
3′ splice site | 12 | 4.65 × 10−5 |
Stop loss | 1 | 3.87 × 10−6 |
Stop gain | 12 | 4.70 × 10−5 |
Frameshift | 1 | 3.87 × 10−6 |