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: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.060 1.000 6 2003 2019
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.020 1.000 2 2006 2016
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.909 44 2003 2019
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12881063
rs12881063
LOC105370397 ; LOC107984671
3 1.000 0.080 14 20788017 downstream gene variant G/C snv 7.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1340026226
rs1340026226
AR
3 1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1490204625
rs1490204625
RASA1
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2017 2017
dbSNP: rs200081710
rs200081710
TNIP3
3 1.000 0.120 4 121154648 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.020 1.000 2 2008 2013
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019