Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767910122 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs199472718 1.000 0.120 11 2572102 missense variant A/C;G snv 2
rs267606782
EMD
0.925 0.120 X 154379485 start lost A/G snv 4
rs1554920808 1.000 0.120 11 2776991 missense variant A/G snv 3
rs199473103 0.925 0.120 3 38606102 missense variant A/G snv 3
rs1247665387 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs199473470 1.000 0.120 11 2583472 missense variant C/A snv 2
rs143149582 11 2588801 missense variant C/A snv 4.0E-06 1
rs566251672 1.000 0.120 3 38587437 missense variant C/A;T snv 4.0E-06; 1.6E-05 2
rs199473605 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 7
rs104894585 0.851 0.120 17 70175263 missense variant C/G;T snv 5
rs199472730 0.882 0.120 11 2572895 missense variant C/G;T snv 5
rs199473442 1.000 0.120 11 2445103 missense variant C/G;T snv 3
rs201943194 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs868064163 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs104894485 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 4
rs1554430943 0.925 0.160 7 150974821 missense variant C/T snv 4
rs794728448 0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs1554919471 0.925 0.200 11 2768861 frameshift variant G/- delins 4
rs121912504 0.851 0.200 7 150951711 missense variant G/A snv 6
rs121434500 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 5
rs11551437 1.000 0.080 2 47161833 missense variant G/A snv 3
rs1254179611 1.000 0.120 7 150958295 missense variant G/A snv 3
rs199472756 0.925 0.120 11 2583486 missense variant G/A snv 3
rs786205753 0.925 0.080 12 2593255 missense variant G/A snv 3