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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs121909673
rs121909673
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121917748
rs121917748
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918631
rs121918631
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs13306038
rs13306038
1 1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs1398830127
rs1398830127
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs142740233
rs142740233
3 0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs146572471
rs146572471
1 1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs16850331
rs16850331
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs1805057
rs1805057
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs201931599
rs201931599
1 1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs210987
rs210987
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs211014
rs211014
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs267606837
rs267606837
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs3943809
rs3943809
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs4648306
rs4648306
1 1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12 0.010 1.000 1 2017 2017