Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 16
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 6
rs214782
TGM3 ; LOC105372503
0.851 0.040 20 2301324 intron variant G/A snv 0.73 4
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 3
rs121918348
SMO
0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05 2
rs2805831
PTCSC2
1.000 0.040 9 97704354 intron variant G/A snv 0.18 2
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 11
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 10
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 6
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 16
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1805005
MC1R
0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 8
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 2
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 3
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134