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: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2013 2013
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1312391542
rs1312391542
PRDM1 ; ATG5
2 0.925 0.120 6 106104897 missense variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1390458638
rs1390458638
ABCB6
2 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1426981647
rs1426981647
CHEK2
2 0.925 0.200 22 28710038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs143002189
rs143002189
TNFAIP3
3 1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs1443292790
rs1443292790
CD79B
2 1.000 0.120 17 63929438 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1625895
rs1625895
TP53
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2006 2006
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800683
rs1800683
LTA ; LOC100287329
6 0.807 0.240 6 31572294 5 prime UTR variant G/A;C snv 0.39 0.010 1.000 1 2013 2013
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 2015 2015
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1801195
rs1801195
WRN
8 0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 0.010 1.000 1 2013 2013
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 2012 2012
dbSNP: rs1880030
rs1880030
BCL7A
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1883112
rs1883112
NCF4 ; NCF4-AS1
4 0.851 0.200 22 36860804 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs201345298
rs201345298
PTPN6
1 1.000 0.120 12 6955413 missense variant C/A snv 3.8E-04 4.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs20551
rs20551
EP300
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 1.000 1 2017 2017