Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2075859
MUC5B
11 1229258 missense variant C/G;T snv 0.39 1
rs2735727
MUC5B
11 1236229 intron variant G/A;C snv 1
rs2014486
MUC5B
1.000 0.040 11 1237573 intron variant A/G snv 0.52 2
rs2735733
MUC5B
1.000 0.040 11 1240410 intron variant C/T snv 0.49 0.43 2
rs4963059
MUC5B-AS1 ; MUC5B
11 1251628 synonymous variant C/T snv 0.32 0.29 1
rs2857476
MUC5B
1.000 0.040 11 1259904 intron variant T/C snv 0.54 2
rs12417955 11 1262997 downstream gene variant A/G snv 0.55 0.54 1
rs5744034
TOLLIP
11 1275007 3 prime UTR variant A/G snv 0.13 1
rs3168046
TOLLIP
11 1275419 3 prime UTR variant G/A snv 0.42 1
rs3829223
TOLLIP
11 1279176 intron variant C/T snv 0.49 1
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs3793964
TOLLIP
0.882 0.120 11 1280752 intron variant T/C snv 0.66 4
rs6590330 0.851 0.280 11 128441164 intergenic variant G/A;T snv 5
rs7117932
ETS1 ; LOC105369565
1.000 0.080 11 128567058 intron variant C/T snv 0.37 2
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs3750920
TOLLIP
0.807 0.120 11 1288726 synonymous variant C/T snv 0.40 0.38 7
rs4728142 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 18
rs2853672
TERT
0.882 0.080 5 1292868 intron variant C/A;G snv 4
rs1033198 11 1325572 intergenic variant T/A;C;G snv 1
rs7118481 11 1327108 regulatory region variant G/A;C;T snv 1
rs2334659 11 1335833 non coding transcript exon variant G/A snv 0.11 1
rs7122936
LINC02689
11 1353226 intron variant C/A;G snv 1
rs11023590
LINC02689
11 1354730 intron variant C/T snv 0.54 1
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18