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: rs17822471
rs17822471
1 1.000 0.040 16 48208468 missense variant G/A snv 5.1E-02 4.8E-02 0.020 1.000 2 2013 2017
dbSNP: rs763794263
rs763794263
1 1.000 0.040 11 17432232 missense variant G/A snv 6.3E-05 3.5E-05 0.020 1.000 2 2013 2017
dbSNP: rs7761731
rs7761731
2 0.925 0.040 6 46596080 missense variant A/G;T snv 0.35 0.020 1.000 2 2012 2015
dbSNP: rs1050274678
rs1050274678
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10824095
rs10824095
ADK
2 0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs11719165
rs11719165
2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs117506642
rs117506642
2 1.000 0.040 2 195143585 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117829974
rs117829974
2 1.000 0.040 3 62886233 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12046844
rs12046844
2 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs1218899764
rs1218899764
1 1.000 0.040 1 97515829 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1260186456
rs1260186456
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs12720066
rs12720066
2 0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs12934241
rs12934241
2 0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1326123837
rs1326123837
2 0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1341929358
rs1341929358
1 1.000 0.040 1 161230905 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1422359334
rs1422359334
2 0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1424665740
rs1424665740
2 0.925 0.040 13 103066068 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1453542
rs1453542
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1482105290
rs1482105290
2 0.925 0.040 13 50012772 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs149104283
rs149104283
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1610696
rs1610696
2 0.925 0.040 6 29831026 3 prime UTR variant C/G snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs16957920
rs16957920
1 1.000 0.040 13 87710848 intergenic variant G/C snv 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs17376848
rs17376848
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17501331
rs17501331
2 0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1885301
rs1885301
2 0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58 0.010 1.000 1 2013 2013