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: rs369203092
rs369203092
ATM
1 1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs371713984
rs371713984
ATM
1 1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs567060474
rs567060474
ATM ; C11orf65
1 1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04 0.700 0
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1064796681
rs1064796681
TP53
1 1.000 0.120 17 7675091 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs12953717
rs12953717
SMAD7
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.010 < 0.001 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs228014
rs228014
ASTN1
1 1.000 0.120 1 177002472 intron variant T/C snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 < 0.001 1 2014 2014
dbSNP: rs876660821
rs876660821
TP53
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.010 < 0.001 1 1994 1994
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2019
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 0.500 2 2006 2008
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2007 2019
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.080 1.000 8 2013 2019
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.840 1.000 7 2008 2018
dbSNP: rs872071
rs872071
IRF4
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.840 1.000 7 2008 2014
dbSNP: rs13397985
rs13397985
SP110 ; SP140
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.830 1.000 6 2008 2014
dbSNP: rs7176508
rs7176508
DRAIC
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.830 1.000 6 2008 2014
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.050 1.000 5 2015 2018
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.050 1.000 5 2015 2018
dbSNP: rs17483466
rs17483466
ACOXL ; MIR4435-2HG
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.830 1.000 5 2008 2013
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2007 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2012
dbSNP: rs11083846
rs11083846
PRKD2
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.830 1.000 3 2008 2010