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: rs10491003
rs10491003
2 10 9286688 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11918240
rs11918240
1 3 122226991 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12150338
rs12150338
2 17 1730810 synonymous variant C/G;T snv 4.0E-06; 0.12 0.800 1.000 1 2010 2010
dbSNP: rs12901379
rs12901379
1 15 50692447 downstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1402200
rs1402200
2 3 122303570 intergenic variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs16833078
rs16833078
2 3 122380747 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833080
rs16833080
2 3 122382060 intron variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs16833168
rs16833168
2 3 122535800 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs17200894
rs17200894
2 3 122411294 3 prime UTR variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs17711722
rs17711722
2 7 65806210 downstream gene variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs3109133
rs3109133
1 2 132545965 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3792289
rs3792289
2 3 122274753 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3750996
rs3750996
2 1.000 0.040 11 4091970 3 prime UTR variant A/G snv 7.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs17266816
rs17266816
2 3 122410027 3 prime UTR variant G/A snv 7.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs4678181
rs4678181
1 3 122320183 downstream gene variant G/A snv 8.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs13068893
rs13068893
1 3 122307242 regulatory region variant C/G snv 8.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs4678176
rs4678176
1 3 122290328 3 prime UTR variant A/G snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11101061
rs11101061
1 10 49244632 intergenic variant T/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.800 1.000 4 2010 2018
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.800 1.000 2 2010 2017
dbSNP: rs6123359
rs6123359
2 1.000 0.080 20 54098167 regulatory region variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs17265703
rs17265703
4 3 122329797 intron variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs2001548
rs2001548
2 3 122313942 upstream gene variant G/A snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs5008830
rs5008830
2 3 122311615 intergenic variant G/A snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs9789994
rs9789994
2 3 122499004 intron variant T/A snv 0.13 0.700 1.000 1 2010 2010