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: 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: 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
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11762469
rs11762469
BRAF
2 1.000 0.080 7 140914412 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913375
rs121913375
BRAF
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 < 0.001 1 2018 2018
dbSNP: rs1319984849
rs1319984849
EZH1
1 1.000 0.080 17 42727721 frameshift variant G/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1377580273
rs1377580273
NBN
3 0.882 0.120 8 89947888 missense variant T/C snv 4.6E-06 0.010 1.000 1 2017 2017
dbSNP: rs1394069156
rs1394069156
CHEK2
1 1.000 0.080 22 28703554 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs144110687
rs144110687
P2RX6
1 1.000 0.080 22 21025856 synonymous variant C/G;T snv 4.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1453167097
rs1453167097
TP53
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1466683466
rs1466683466
P2RX3
1 1.000 0.080 11 57348630 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1486830727
rs1486830727
EDNRA
1 1.000 0.080 4 147532671 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs149959485
rs149959485
CXCR6 ; FYCO1
1 1.000 0.080 3 45947356 missense variant G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1800812
rs1800812
PDGFRA
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2012 2012