Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 16
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 9
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs214803
TGM3
0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 4
rs7006527
RGS22
0.851 0.040 8 100012277 intron variant A/C;T snv 4
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 4
rs786203714
PALB2
0.925 0.200 16 23635095 stop gained A/T snv 4
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv 3
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 3
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 2
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs137853214
CCNH ; RASA1
0.925 0.040 5 87349304 missense variant G/T snv 1
rs137853215
RASA1 ; CCNH
0.925 0.040 5 87349309 missense variant A/G snv 1
rs137853216
CCNH ; RASA1
0.925 0.040 5 87349312 missense variant A/G snv 1
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 1
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 1