Source: ALL
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
CCNH ; RASA1
2 0.925 0.040 5 87349304 missense variant G/T snv 0.700 0
dbSNP: rs137853215
rs137853215
CCNH ; RASA1
2 0.925 0.040 5 87349309 missense variant A/G snv 0.700 0
dbSNP: rs137853216
rs137853216
CCNH ; RASA1
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
CHEK2
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
ATM ; C11orf65
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
PALB2
4 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80359601
rs80359601
BRCA2
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: rs1799793
rs1799793
ERCC2
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: rs2303425
rs2303425
MSH2
8 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 0.010 < 0.001 1 2018 2018
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs965337385
rs965337385
PPP1R13L
2 1.000 0.040 19 45395856 missense variant T/C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.333 3 2004 2015
dbSNP: rs2228479
rs2228479
MC1R
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: rs13181
rs13181
ERCC2 ; KLC3
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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.030 1.000 3 2011 2019
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 3 2009 2015
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015