Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918243 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 5
rs762425351 0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs148234606 0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs137852832 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs587784543 1.000 19 36083171 missense variant G/A snv 5.3E-05 6.3E-05 2
rs149830411 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs796943858 0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05 4
rs746882521 0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs754129466 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 2
rs863225422 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs768933093 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs767982852 0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05 6
rs768663992 0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 5
rs267608247 1.000 6 42965078 missense variant C/A;G;T snv 4.2E-05 2
rs139751598 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs137852863 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs761621368 1.000 8 1780408 frameshift variant C/- delins 4.0E-06 3.5E-05 3
rs754320812 0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05 4
rs747768373 6 109792665 splice donor variant G/A snv 8.0E-06 2.8E-05 1
rs397515440 1.000 14 31599310 missense variant G/T snv 2.0E-05 2.8E-05 3
rs746480833 1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 2
rs137853105 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs61753219 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs750331613 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 5
rs1242562412 1.000 17 39687906 stop gained C/A snv 2.1E-05 3