Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918347
rs121918347
SMO
4 0.851 0.080 7 129210500 missense variant G/T snv 0.700 0
dbSNP: rs121918348
rs121918348
SMO
2 0.925 0.040 7 129210997 missense variant G/A snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs137853214
rs137853214
2 0.925 0.040 5 87349304 missense variant G/T snv 0.700 0
dbSNP: rs137853215
rs137853215
2 0.925 0.040 5 87349309 missense variant A/G snv 0.700 0
dbSNP: rs137853216
rs137853216
2 0.925 0.040 5 87349312 missense variant A/G snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs775248597
rs775248597
ATM
5 0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 0.700 0
dbSNP: rs778031266
rs778031266
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs786203714
rs786203714
4 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
dbSNP: rs80357522
rs80357522
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80359601
rs80359601
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs885479
rs885479
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2001 2001
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005
dbSNP: rs1356844630
rs1356844630
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 < 0.001 1 2005 2005
dbSNP: rs965337385
rs965337385
2 1.000 0.040 19 45395856 missense variant T/C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006
dbSNP: rs1036980234
rs1036980234
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1805005
rs1805005
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2006 2006
dbSNP: rs357564
rs357564
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs758656848
rs758656848
3 0.925 0.040 9 95485797 missense variant T/C snv 0.010 1.000 1 2006 2006