Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs2232365
FOXP3
0.716 0.480 X 49259429 intron variant T/C snv 16
rs1232898090
PPARA
0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs2228314
SREBF2
0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 8
rs532464664
CHADL
0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 3
rs715572
TIMP3 ; SYN3
0.925 0.040 22 32838944 intron variant G/A snv 0.18 3
rs528981060
SCUBE1
1.000 0.040 22 43266235 intron variant G/A snv 5.0E-04 1
rs226794
ADAMTS5
0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 3
rs2830585
ADAMTS5
1.000 0.040 21 26932893 missense variant C/T snv 0.12 0.12 2
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 17
rs143384
GDF5
0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 17
rs116855380 1.000 0.040 20 47491550 downstream gene variant A/G snv 2.8E-02 1
rs2248393
UQCC1
1.000 0.040 20 35338300 intron variant C/G snv 0.45 1
rs6094710 1.000 0.040 20 47466905 intergenic variant G/A snv 5.0E-02 1
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs12982744
DOT1L
0.925 0.040 19 2177194 intron variant C/A;G;T snv 4
rs28936368
COMP
0.882 0.080 19 18783129 missense variant G/A;T snv 8.6E-04 3
rs75621460
TGFB1
0.882 0.040 19 41327879 intron variant G/A snv 2.0E-02 3
rs763098832
COMP
0.882 0.120 19 18783189 missense variant G/C;T snv 4.1E-06 3
rs867986409
COMP
0.882 0.120 19 18784246 missense variant C/T snv 8.0E-06 3
rs769389061
RETN
0.925 0.120 19 7670321 missense variant G/A;C snv 2
rs10401670
MCEMP1
1.000 0.040 19 7677916 intron variant T/C;G snv 0.49 1
rs1560707
SLC44A2
1.000 0.040 19 10640062 intron variant T/A;G snv 1
rs11564299 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 2