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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2012 2012
dbSNP: rs34568801
rs34568801
1 1.000 0.040 1 19975708 missense variant C/T snv 4.6E-03 4.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs516651
rs516651
1 1.000 0.040 1 231406910 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs672961
rs672961
1 1.000 0.040 1 70101505 intron variant C/G snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.020 1.000 2 2013 2014
dbSNP: rs1130866
rs1130866
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2000 2000
dbSNP: rs13402990
rs13402990
1 1.000 0.040 2 70231632 intron variant A/T snv 9.7E-03 0.010 1.000 1 2016 2016
dbSNP: rs2592178
rs2592178
1 1.000 0.040 2 70245350 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs7744
rs7744
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs121434431
rs121434431
4 0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs3774934
rs3774934
4 0.851 0.080 4 102506319 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4698803
rs4698803
EGF
1 1.000 0.040 4 109993271 missense variant A/G;T snv 0.85 0.010 1.000 1 2009 2009
dbSNP: rs6533485
rs6533485
EGF
1 1.000 0.040 4 110006407 intron variant G/C snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs761495176
rs761495176
3 0.882 0.080 5 143400263 missense variant T/C snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs832582
rs832582
2 0.925 0.080 5 56881916 missense variant G/A snv 0.76 0.78 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2018 2019
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2009 2009
dbSNP: rs1190286
rs1190286
1 1.000 0.040 6 105163071 intron variant C/T snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1805018
rs1805018
6 0.827 0.200 6 46711566 missense variant A/G snv 6.8E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2019 2019