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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
dbSNP: rs370004591
rs370004591
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs374711533
rs374711533
DCLK3
1 1.000 0.080 3 36718103 missense variant G/A snv 9.2E-05 1.6E-04 0.700 0
dbSNP: rs770167074
rs770167074
BMP2K
1 1.000 0.080 4 78826060 missense variant G/A;C snv 1.6E-05; 4.0E-06 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 0.010 < 0.001 1 2019 2019
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2015 2019
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.700 1.000 3 2012 2016
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 2 2016 2017
dbSNP: rs121913428
rs121913428
EGFR
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2012 2013
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.710 1.000 2 2015 2016
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2015 2016
dbSNP: rs147680653
rs147680653 		17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs397517097
rs397517097
EGFR
4 0.851 0.080 7 55174777 missense variant T/C snv 0.700 1.000 2 2012 2013
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs10118570
rs10118570 		2 0.925 0.120 9 125714185 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10146472
rs10146472
NPAS3
1 1.000 0.080 14 33545815 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016