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: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 2 2008 2014
dbSNP: rs142310826
rs142310826 		3 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs59586681
rs59586681 		4 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.710 1.000 1 2011 2011
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: rs749496294
rs749496294
ATRN
3 0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
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: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.010 1.000 1 2017 2017
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: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.700 1.000 1 2014 2014
dbSNP: rs768043782
rs768043782
CDKN2B ; CDKN2B-AS1
2 1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 0.010 1.000 1 2009 2009
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: 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: rs893729101
rs893729101
CLPTM1L
2 1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
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: 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: rs2228527
rs2228527
ERCC6
3 0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2228529
rs2228529
ERCC6
4 0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2012 2012
dbSNP: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017