Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 6
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs59586681 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 4
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 4
rs7297245
HAL
0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 4
rs157935
LINC00513 ; LINC-PINT
0.851 0.040 7 130900794 intron variant T/G snv 0.28 4
rs786203714
PALB2
0.925 0.200 16 23635095 stop gained A/T snv 4
rs7006527
RGS22
0.851 0.040 8 100012277 intron variant A/C;T snv 4
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs214803
TGM3
0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 4
rs214782
TGM3 ; LOC105372503
0.851 0.040 20 2301324 intron variant G/A snv 0.73 4
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 3
rs2228527
ERCC6
0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20 3
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv 3
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv 3
rs760253622
PTCH1
0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 3
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 3
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 2