Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10644111 1.000 0.080 7 92022864 protein altering variant -/AAC delins 0.39 0.46 1
rs6964587 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 1
rs421379 0.925 0.080 5 91979496 intergenic variant T/C snv 0.75 1
rs9884765 1.000 0.080 4 91717049 intergenic variant T/A;C snv 1
rs139530473 1.000 0.080 14 91545453 intergenic variant TTCT/- delins 0.18 1
rs332529 1.000 0.080 5 91493653 intron variant G/A;T snv 1
rs10474352 0.925 0.080 5 91436408 intron variant C/T snv 0.23 1
rs150658557 1.000 0.080 14 91422581 upstream gene variant AAA/-;A;AA;AAAA;AAAAA;AAAAAAAAAA delins 1
rs941764 0.925 0.080 14 91374725 intron variant A/G snv 0.46 2
rs12110303 1.000 0.080 5 91367022 downstream gene variant G/A;T snv 1
rs10520699 1.000 0.080 15 90979736 intron variant G/A snv 8.6E-02 1
rs8042680 0.882 0.160 15 90978107 intron variant C/A snv 0.54 1
rs11852999 1.000 0.080 15 90971530 intron variant C/T snv 0.10 1
rs2290203 0.882 0.160 15 90968837 3 prime UTR variant G/A snv 0.29 2
rs77554484 1.000 0.080 15 90965985 upstream gene variant C/A;T snv 1
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 2
rs67958007 1.000 0.080 10 9046151 intergenic variant G/- del 0.12 1
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 2
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 1
rs1800682 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 7
rs2234767 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs10022462 1.000 0.080 4 88322666 intron variant C/T snv 0.41 1
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 5
rs2725207 0.882 0.200 4 88058377 intron variant C/A snv 0.31 4
rs11583393 1.000 0.080 1 87963341 intron variant C/A snv 0.21 1