Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 26
rs143383
GDF5
0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 17
rs679620
MMP3
0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 17
rs2779249
NOS2
0.851 0.200 17 27801555 intron variant C/A snv 0.33 7
rs12722
COL5A1 ; LOC101448202
0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 6
rs650108
MMP3
0.827 0.160 11 102838056 intron variant G/A snv 0.31 6
rs3196378
LOC101448202 ; COL5A1
0.882 0.080 9 134843036 3 prime UTR variant C/A;G;T snv 4
rs946053
COL27A1
1.000 9 114287611 intron variant T/G snv 0.63 3
rs591058
MMP3
0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57 3
rs384129
GAS2
0.925 0.160 11 22670928 intron variant T/A snv 2
rs1138545
TNC ; DELEC1
1.000 9 115073620 missense variant C/A;T snv 0.12 2
rs2104772
TNC ; DELEC1
0.925 0.080 9 115046506 missense variant T/A snv 0.44 0.47 2
rs207137 1.000 1 55347080 intron variant G/A snv 9.6E-03 1
rs4789932 1.000 17 78928193 upstream gene variant G/A;C snv 1
rs1799907
COL11A2
1.000 6 33185058 splice region variant A/G;T snv 0.30 1
rs1249744
COL27A1
1.000 9 114281072 intron variant A/G snv 0.22 1
rs2241671
COL27A1
1.000 9 114168819 missense variant G/A;T snv 0.41; 4.0E-06 1
rs2567705
COL27A1
1.000 9 114169386 missense variant A/G;T snv 0.33 1
rs4143245
COL27A1
1.000 9 114270742 synonymous variant T/C snv 0.42 0.42 1
rs753085
COL27A1
1.000 9 114283167 intron variant G/A snv 0.20 1
rs1061494
DELEC1 ; TNC
1.000 9 115084301 missense variant T/C snv 0.45 0.48 1
rs1330363
DELEC1 ; TNC
1.000 9 115051711 intron variant C/T snv 0.62 1