Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7006527
RGS22
0.851 0.040 8 100012277 intron variant A/C;T snv 4
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs179008
TLR7
0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 14
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs121918348
SMO
0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05 2
rs157935
LINC00513 ; LINC-PINT
0.851 0.040 7 130900794 intron variant T/G snv 0.28 4
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs893729101
CLPTM1L
1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 3
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 6
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs768043782
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 2