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: rs17216707
rs17216707
6 20 54115823 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2207173
rs2207173
2 20 22824423 intergenic variant G/A snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs6127099
rs6127099
5 20 54114863 intergenic variant A/T snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs2302190
rs2302190
3 17 58507147 missense variant T/A;C snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs2277458
rs2277458
2 14 39114277 5 prime UTR variant A/G snv 0.80 0.83 0.700 1.000 1 2017 2017
dbSNP: rs8018720
rs8018720
2 14 39086981 missense variant G/C;T snv 0.80; 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs12868495
rs12868495
2 13 34067425 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs1410656
rs1410656
2 13 46968386 intergenic variant T/C snv 0.97 0.700 1.000 1 2018 2018
dbSNP: rs10745742
rs10745742
2 12 95964751 intron variant C/T snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs3819817
rs3819817
HAL
2 12 95984993 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs719700
rs719700
2 12 45635426 intergenic variant T/C snv 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs1007392
rs1007392
2 11 14753045 intron variant A/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs11023332
rs11023332
2 11 14762564 intron variant G/C snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs11234027
rs11234027
5 0.882 0.080 11 71523061 intron variant G/A snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs116970203
rs116970203
2 11 14855172 intron variant G/A snv 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs117300835
rs117300835
2 11 15097429 intergenic variant G/A snv 7.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs117865811
rs117865811
2 11 14180763 intron variant A/G snv 6.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs117913124
rs117913124
2 11 14879385 synonymous variant G/A snv 1.7E-02 1.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs12287212
rs12287212
2 11 14428315 intergenic variant C/A snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12800438
rs12800438
5 1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs182244780
rs182244780
2 11 14363985 intron variant G/A snv 6.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs185378533
rs185378533
2 11 71422087 intron variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs1993116
rs1993116
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.700 1.000 1 2010 2010