Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 1
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 4
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 2
rs1333048 0.683 0.320 9 22125348 intron variant A/C snv 0.44 10
rs5742904 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 9
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 7
rs113994095 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 4
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs2251219 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 3
rs8321 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 15
rs8040868 0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 7
rs1480380 0.763 0.360 6 32945469 intron variant C/T snv 0.11 10
rs1625579 0.763 0.160 1 98037378 intron variant G/T snv 0.78 5
rs886424 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 10
rs1333045 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 6
rs11191454 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 5
rs10994336 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 2
rs1555454508 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18