Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1554208945 0.752 0.240 6 87260207 missense variant A/C snv 26
rs1247665387 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs63750687 0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs11655081 0.851 0.080 17 68386068 intron variant T/C snv 0.18 7
rs748787734 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs1555507479 0.807 0.160 16 56336799 missense variant C/A snv 12
rs104894003 0.827 0.320 7 5528536 missense variant G/A snv 7
rs1566687487 14 54902537 frameshift variant -/G delins 1
rs1566658823 1.000 0.120 14 54844138 missense variant A/G snv 4
rs104894442 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 3
rs761104644 19 53109614 missense variant A/G snv 4.0E-06 2
rs1114167290 0.882 0.080 15 52340235 missense variant G/C snv 5
rs139455627 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1569151872 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs1554389088 0.807 0.160 7 44243526 missense variant G/A snv 27
rs1555582065 0.827 0.160 17 44212851 missense variant C/T snv 13
rs74315442 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs878853161 0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs146087734 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2