Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs12979860 0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs855791 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 35
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1884444 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs17235409 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs4833095 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 28