Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35106244
FUT2
19 48700572 intron variant C/T snv 0.29 2
rs601338
FUT2 ; LOC105447645
0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 19
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs2244613
CES1
0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 4
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs769107320
UGT2B7
4 69108277 missense variant G/A;C snv 1
rs9351963
KCNQ5
6 73040138 intron variant A/C snv 0.19 1
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs10474485
CRHBP
1.000 0.040 5 76975028 intron variant C/A snv 0.26 2
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 9
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs6151627
MSH3
5 80669717 intron variant A/G snv 0.23 1
rs33013
MSH3
5 80764197 intron variant G/A snv 0.35 1
rs12513549
MSH3
5 80781309 intron variant G/T snv 0.13 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214