Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 43
rs143384
GDF5
0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 14
rs6570507
ADGRG6
0.827 0.240 6 142358435 intron variant G/A snv 0.47 11
rs2247056
LOC112267902 ; HLA-B ; LINC02571
0.882 0.160 6 31297713 intron variant T/C snv 0.80 11
rs185819
TNXB
0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 10
rs17782313 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 9
rs3791679
EFEMP1 ; LOC112268416
0.925 0.120 2 55869757 intron variant A/G snv 0.20 9
rs11205303
MTMR11
0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 9
rs2145272 20 6645571 intergenic variant G/A;T snv 8
rs2516448 0.827 0.120 6 31422633 intron variant T/C;G snv 8
rs1182188
GNA12
0.827 0.120 7 2830351 intron variant T/C snv 0.26 8
rs35874463
SMAD3
0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02 8
rs13437082 1.000 6 31386783 upstream gene variant C/T snv 0.32 7
rs5742915
PML
0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 7
rs17391694 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 6
rs9292468 5 32818967 intergenic variant T/A;C snv 6
rs7741741
ADGRG6
0.925 0.040 6 142334664 intron variant T/A;G snv 6
rs11082304
CABLES1
18 23141009 intron variant G/C;T snv 6
rs806794
H2AC7 ; H3C4 ; H2BC7
6 26200449 3 prime UTR variant A/G snv 0.36 6
rs1812175
HHIP-AS1 ; HHIP
4 144653692 intron variant A/G snv 0.79 6
rs6569648
L3MBTL3
1.000 0.080 6 130027974 intron variant C/T snv 0.84 6
rs2284746
MFAP2
1 16980180 intron variant C/A;G snv 6
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 6
rs6457620 0.882 0.200 6 32696222 intergenic variant G/C snv 0.52 5
rs4896582
ADGRG6
6 142382740 intron variant G/A snv 0.50 5