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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.571 7 2008 2018
dbSNP: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs730437
rs730437
EGFR
2 0.925 0.120 7 55147325 intron variant A/C snv 0.51 0.040 0.750 4 2012 2017
dbSNP: rs11216930
rs11216930
PHLDB1
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs201963
rs201963
ADAM18
1 1.000 0.040 8 39721376 intron variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2239647
rs2239647
AKAP6
7 0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 0.010 1.000 1 2019 2019
dbSNP: rs3212112
rs3212112
KLC1 ; XRCC3
1 1.000 0.040 14 103699345 intron variant A/C snv 7.1E-03 2.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs374524467
rs374524467
PITX2
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4774756
rs4774756
RAB27A
1 1.000 0.040 15 55254859 intron variant A/C snv 0.66 0.710 1.000 1 2019 2019
dbSNP: rs865880036
rs865880036
MEIS2
5 0.827 0.040 15 37098156 missense variant A/C snv 1.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs9933544
rs9933544 		3 0.882 0.040 16 24576962 downstream gene variant A/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs6010620
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs11706832
rs11706832
LRIG1
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs17006625
rs17006625
KAT2B
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs11571378
rs11571378
RAD52
2 0.925 0.080 12 950115 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1345354331
rs1345354331
GPX1
1 1.000 0.040 3 49358221 missense variant A/C;T snv 6.8E-06; 6.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
2 1.000 0.040 10 87864514 missense variant A/C;T snv 0.700 0
dbSNP: rs55705857
rs55705857
CCDC26
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.760 1.000 9 2013 2019
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.080 1.000 8 2009 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.060 1.000 6 2010 2018
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.050 1.000 5 2011 2016
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.810 1.000 4 2009 2016