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: rs11918240
rs11918240
1 3 122226991 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3749203
rs3749203
2 3 122257647 intron variant C/T snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs10222633
rs10222633
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs10934578
rs10934578
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs3804590
rs3804590
2 3 122259226 intron variant G/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs3749208
rs3749208
2 3 122261437 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13095172
rs13095172
2 3 122271410 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
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: rs3792289
rs3792289
2 3 122274753 intron variant A/G;T snv 0.700 1.000 1 2010 2010
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: rs12635478
rs12635478
2 3 122289706 3 prime UTR variant C/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs4678176
rs4678176
1 3 122290328 3 prime UTR variant A/G snv 9.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs13085674
rs13085674
2 3 122292504 downstream gene variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13085498
rs13085498
2 3 122292516 downstream gene variant C/A;T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs1472621
rs1472621
2 3 122293879 downstream gene variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs10934582
rs10934582
3 3 122294507 downstream gene variant G/A snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs13083990
rs13083990
4 0.925 0.080 3 122295719 downstream gene variant T/C snv 0.30 0.700 1.000 1 2010 2010
dbSNP: rs6438720
rs6438720
2 3 122298385 TF binding site variant A/C snv 0.60 0.700 1.000 1 2010 2010
dbSNP: rs16832956
rs16832956
2 3 122298661 regulatory region variant C/G;T snv 0.19 0.700 1.000 1 2010 2010
dbSNP: rs9851884
rs9851884
2 3 122301347 regulatory region variant A/G snv 0.66 0.700 1.000 1 2010 2010
dbSNP: rs1402200
rs1402200
2 3 122303570 intergenic variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs13068893
rs13068893
1 3 122307242 regulatory region variant C/G snv 8.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs5008830
rs5008830
2 3 122311615 intergenic variant G/A 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: rs4678180
rs4678180
2 3 122318950 downstream gene variant T/C snv 0.62 0.700 1.000 1 2010 2010