Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
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
rs11170164
KRT5
0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 6
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
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
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv 3
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10 14
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 2
rs137853215
RASA1 ; CCNH
0.925 0.040 5 87349309 missense variant A/G snv 2
rs137853216
CCNH ; RASA1
0.925 0.040 5 87349312 missense variant A/G snv 2
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35