Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1132896 16 55485623 synonymous variant G/C snv 0.31 0.26 1
rs11548491 11 72237492 missense variant C/G;T snv 9.6E-02 1
rs11628722 14 94464768 missense variant A/G snv 0.78 0.71 1
rs11670734 19 29580124 intergenic variant C/G snv 0.63 1
rs11681884 2 113090051 downstream gene variant C/T snv 0.21 1
rs12291066 11 12213613 intron variant G/A snv 3.6E-02 1
rs12417971 11 69202341 intergenic variant C/T snv 6.4E-02 1
rs12442374 15 56012299 intergenic variant C/G;T snv 1
rs12646447 4 110778170 intergenic variant T/C snv 0.15 1
rs1290267513 10 113146078 missense variant G/A snv 4.0E-06 7.1E-06 1
rs13168506 5 136060763 intron variant A/G snv 0.57 1
rs13407662 2 53555422 intron variant C/T snv 4.4E-02 1
rs145067756 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 1
rs147565266 2 187446788 intron variant T/A snv 2.1E-05 1
rs1480544 4 170066485 splice region variant A/G;T snv 0.57; 4.0E-04 1
rs148158062 1 147468451 intron variant -/GTTCCTTC delins 1
rs1564060 14 84159449 intergenic variant A/G snv 0.68 1
rs1568362252 19 15192490 missense variant C/T snv 1
rs161802 1 7982766 intron variant G/T snv 0.25 1
rs16851055 3 141080371 non coding transcript exon variant G/A snv 0.26 1
rs17329620 12 87757000 upstream gene variant A/C;G snv 0.11 1
rs17347800 7 18477656 intron variant G/A;T snv 1
rs1767788 6 44627656 regulatory region variant C/T snv 0.75 1
rs17771318 10 48703312 intron variant G/A snv 2.9E-02 1
rs1800542 6 12292295 intron variant G/A snv 5.6E-02 0.11 1