Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs768043782
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 2
rs893729101
CLPTM1L
1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs774885952
GLI1
1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 2
rs659857
MUS81
1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 2
rs57343616
NABP2 ; SLC39A5
1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 2
rs79824801
PAN2 ; IL23A
1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 2
rs965337385
PPP1R13L
1.000 0.040 19 45395856 missense variant T/C snv 2
rs746339472
PTCH1
1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05 2
rs937023804
PTCH1
1.000 0.040 9 95479023 missense variant C/T snv 2.1E-05 2
rs2805831
PTCSC2
1.000 0.040 9 97704354 intron variant G/A snv 0.18 2
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2
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
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
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
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
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
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6