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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2010 2010
dbSNP: rs11646171
rs11646171
CDH8
1 16 61824185 intron variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11651270
rs11651270
NLRP1
4 0.882 0.240 17 5521757 missense variant T/C snv 0.45 0.47 0.010 1.000 1 2016 2016
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
4 0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs11671784
rs11671784
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
9 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs11777210
rs11777210
KBTBD11
2 1.000 0.080 8 1979843 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs119484086
rs119484086
ELAC2
5 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121908586
rs121908586
PDGFRA
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121909174
rs121909174
SLC5A5
3 0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs121912518
rs121912518
LHCGR ; GTF2A1L ; STON1-GTF2A1L
5 0.882 0.160 2 48688064 missense variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121912665
rs121912665
TP53
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2015 2015