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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.917 12 2000 2019
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2007 2017
dbSNP: rs10850407
rs10850407
1 12 114940232 intergenic variant T/G snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs13285624
rs13285624
1 9 37129499 intron variant T/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1408888
rs1408888
5 0.851 0.120 13 71854515 intron variant T/G snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
dbSNP: rs188315257
rs188315257
1 2 25018517 intron variant T/G snv 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2478981
rs2478981
1 20 63852557 intergenic variant T/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2977324
rs2977324
1 8 75804502 intergenic variant T/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs41316468
rs41316468
1 8 27432501 intron variant T/G snv 7.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs62434109
rs62434109
5 6 150654176 intron variant T/G snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs71636784
rs71636784
4 1.000 0.040 1 26842709 intron variant T/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs7267618
rs7267618
1 20 59131469 intron variant T/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs72831343
rs72831343
2 10 61755923 intron variant T/G snv 9.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs76895963
rs76895963
6 1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2005 2019
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.710 1.000 2 2014 2019
dbSNP: rs112684153
rs112684153
1 13 41275595 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12916
rs12916
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1537375
rs1537375
6 0.882 0.120 9 22116072 intron variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1801239
rs1801239
8 0.827 0.160 10 16877053 missense variant T/C;G snv 8.9E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2680707
rs2680707
1 17 58378280 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2681492
rs2681492
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 1 2019 2019