Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs756459094
MMP1 ; WTAPP1
0.925 0.040 11 102795237 missense variant T/A;C;G snv 1.6E-05; 4.0E-06 2
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1676484
LOC107985096
0.925 0.040 1 102839465 intron variant A/C snv 2
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 7
rs3753841
COL11A1
0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 7
rs12138977
COL11A1
0.925 0.040 1 102927901 intron variant C/T snv 0.52 2
rs576499843
VAV3
0.882 0.040 1 107617607 missense variant A/C;G snv 8.0E-06 7.0E-06 3
rs1466441587
VAV3
0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 3
rs2801219
VAV3
0.882 0.040 1 107959790 intron variant C/A snv 0.62 3
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs11720822
PDIA5
0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02 3
rs3739821
DPM2 ; FAM102A
0.925 0.040 9 127940198 non coding transcript exon variant A/G snv 0.61 2
rs2156323
VAV2
0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 3
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13 4
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs4656461 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 7
rs216489
PLEKHA7
0.925 0.040 11 16802189 intron variant G/A;T snv 2
rs11024102
PLEKHA7
0.851 0.040 11 16987058 intron variant T/C snv 0.20 7
rs183532
MYOC
0.925 0.040 1 171640341 intron variant T/A;C snv 2
rs235875
MYOC
0.925 0.040 1 171644616 intron variant C/T snv 0.16 2
rs235913
MYOC
0.925 0.040 1 171649516 intron variant T/C;G snv 2
rs939336
ABCC5
0.925 0.040 3 183967746 stop gained A/G;T snv 0.58 2
rs1132776
ABCC5
0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61 2
rs12493550
HTR3D
0.925 0.040 3 184034985 intron variant G/A snv 6.3E-02 2