Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs149048873
RCAN1
1.000 0.040 21 34615146 upstream gene variant G/A snv 5.5E-02 2
rs1943950 1.000 0.040 21 30107534 intergenic variant G/A;T snv 1
rs2832616 1.000 0.040 21 30101474 downstream gene variant C/T snv 0.20 1
rs7278845 1.000 0.040 21 34265162 intron variant A/G snv 0.14 1
rs7279549
SON ; GART
1.000 0.040 21 33544307 intron variant T/C snv 0.70 1
rs772225410
CBS
1.000 0.040 21 43066266 missense variant A/G snv 4.0E-06 1
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs1800961
HNF4A
0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 21
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 21
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 17
rs1042579
THBD
0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 16
rs2866611 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 16
rs760762
PLCG1
0.851 0.120 20 41147406 intron variant C/A;T snv 0.59 16
rs867186
PROCR ; MMP24-AS1-EDEM2
0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 15
rs147377392
THBD
0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 11
rs7679
PCIF1
0.925 0.160 20 45947863 3 prime UTR variant T/C snv 0.13 9
rs911119
CST3
0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 9
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 8
rs4809324
RTEL1 ; RTEL1-TNFRSF6B
0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 7
rs1223493898
HNF4A
0.851 0.120 20 44406090 missense variant G/A;C snv 5
rs16982520
ZNF831
1.000 0.040 20 59183665 intron variant A/G snv 0.14 4
rs16998248
ZNF217
0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02 3