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: rs201721079
rs201721079
1 1 65615104 intron variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs35308591
rs35308591
1 1 65615104 intron variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs36066893
rs36066893
CR1
1 1 207620619 intron variant -/T delins 0.700 1.000 1 2012 2012
dbSNP: rs2650000
rs2650000
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 3 2012 2019
dbSNP: rs3845624
rs3845624
2 1 159248476 regulatory region variant A/C snv 0.57 0.800 1.000 2 2012 2019
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs13386602
rs13386602
1 2 113077243 downstream gene variant A/C snv 0.56 0.700 1.000 1 2014 2014
dbSNP: rs174574
rs174574
7 1.000 0.080 11 61832870 intron variant A/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs17519972
rs17519972
2 1.000 0.080 1 92362948 intron variant A/C snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1867939
rs1867939
1 1 159636104 intergenic variant A/C snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs2608928
rs2608928
1 6 131470731 upstream gene variant A/C snv 0.75 0.700 1.000 1 2014 2014
dbSNP: rs2647062
rs2647062
1 6 32602640 intergenic variant A/C snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs3026943
rs3026943
1 1 159162136 intergenic variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs6513566
rs6513566
1 20 61225053 intergenic variant A/C snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs75460349
rs75460349
2 1 26853597 intron variant A/C snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs7979473
rs7979473
2 12 120982457 intron variant A/C;G snv 0.800 1.000 3 2012 2019
dbSNP: rs1169303
rs1169303
1 12 120998573 intron variant A/C;G snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs1441169
rs1441169
1 2 213168806 upstream gene variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4660293
rs4660293
5 1 39562508 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7310409
rs7310409
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.800 1.000 6 2008 2019
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.700 1.000 3 2012 2014
dbSNP: rs12034864
rs12034864
2 1 159215190 regulatory region variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4083420
rs4083420
1 1 159225048 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7979478
rs7979478
2 12 120982460 intron variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.800 1.000 3 2008 2019