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: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.800 5 2014 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2013 2017
dbSNP: rs2517713
rs2517713
HLA-A
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.710 1.000 4 2009 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.040 0.500 4 2011 2018
dbSNP: rs2860580
rs2860580
HLA-A
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.720 1.000 3 2010 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2013 2015
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.020 1.000 2 2013 2014
dbSNP: rs2076483
rs2076483
GABBR1
2 0.925 0.240 6 29603768 intron variant A/C;G snv 3.1E-05; 0.13 0.710 1.000 2 2010 2017
dbSNP: rs2752903
rs2752903
BPIFA1
1 1.000 0.120 20 33235584 upstream gene variant T/C;G snv 0.33 0.020 1.000 2 2012 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2019
dbSNP: rs29230
rs29230
GABBR1
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.700 1.000 2 2010 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2013 2015
dbSNP: rs9258122
rs9258122 		1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.020 1.000 2 2009 2018
dbSNP: rs10163267
rs10163267
MLYCD ; OSGIN1 ; LOC105371371
1 1.000 0.120 16 83940313 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11081899
rs11081899
ZNF24
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11158728
rs11158728
RAD51B
1 1.000 0.120 14 68295488 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12220909
rs12220909
FRMD4A ; MIR4293
5 0.827 0.240 10 14383222 mature miRNA variant G/C;T snv 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2010 2010
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.700 1.000 1 2010 2010