Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1289543302
ABCB1
0.763 0.440 7 87536472 missense variant C/T snv 12
rs141829974
C5
1.000 0.040 9 121037923 synonymous variant G/A snv 2.6E-04 8.0E-04 1
rs4804049
C5AR1
1.000 0.040 19 47320227 synonymous variant T/A;C snv 4.0E-06; 0.99 1
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 30
rs995922697
GPX1
0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 15
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs1440063914
KIDINS220
0.925 0.080 2 8779781 missense variant T/C snv 2
rs79071878
LOC105379176 ; IL4
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del 7
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs28940580
MEFV
0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 17
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 16
rs224222
MEFV
0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 15
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 13
rs104895105
MEFV
0.851 0.120 16 3247171 missense variant G/A snv 7
rs11466018
MEFV
0.827 0.200 16 3254739 missense variant A/G snv 6.6E-03 2.2E-03 7
rs11466023
MEFV
0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05 6
rs104895094
MEFV
0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 5
rs104895080
MEFV
0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04 3
rs104895128
MEFV
0.882 0.160 16 3243593 missense variant C/A;T snv 3.7E-05 3
rs104895081
MEFV
0.925 0.080 16 3254268 missense variant G/A snv 1.6E-04 1.1E-04 2
rs104895083
MEFV
0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 2