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: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs751409106
rs751409106
LIG4
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs11175834
rs11175834
LOC100507065 ; LINC02454
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs4649295
rs4649295
PCNX2
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs6996585
rs6996585
NRG1
2 0.925 0.080 8 32543285 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs72753537
rs72753537
TRMO ; LOC112268051
1 1.000 0.080 9 97898464 intergenic variant T/C snv 9.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs9858271
rs9858271
LOC105377110
2 0.925 0.080 3 59559604 intron variant G/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs10119760
rs10119760 		1 1.000 0.080 9 97862320 intergenic variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1025689
rs1025689
IL17RB
1 1.000 0.080 3 53849695 synonymous variant C/A;G;T snv 8.0E-06; 0.56 0.010 1.000 1 2015 2015
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2019 2019
dbSNP: rs1061758
rs1061758
IL11RA
1 1.000 0.080 9 34652333 intron variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10877887
rs10877887
LINC01465 ; MIRLET7I
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1126757
rs1126757
IL11
3 0.882 0.120 19 55368504 synonymous variant C/G;T snv 4.1E-06; 0.48 0.010 1.000 1 2012 2012
dbSNP: rs1137282
rs1137282
KRAS
5 0.851 0.120 12 25209843 missense variant A/G;T snv 0.19 0.010 1.000 1 2019 2019