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: rs1056744559
rs1056744559
1 1.000 0.080 9 117713974 stop gained C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1265163
rs1265163
1 1.000 0.080 6 31166310 missense variant C/G;T snv 0.14; 7.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs171941
rs171941
1 1.000 0.080 5 79884303 intergenic variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2308557
rs2308557
1 1.000 0.080 6 31271640 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs303218
rs303218
1 1.000 0.080 10 89392836 intron variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35875104
rs35875104
1 1.000 0.080 6 31888517 intron variant T/C snv 3.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs400488
rs400488
1 1.000 0.080 6 29975258 non coding transcript exon variant G/A snv 0.19 0.22 0.010 1.000 1 2016 2016
dbSNP: rs6462008
rs6462008
1 1.000 0.080 7 27309860 intergenic variant G/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs676925
rs676925
1 1.000 0.080 11 118894979 3 prime UTR variant C/G snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs7944135
rs7944135
1 1.000 0.080 11 59253514 upstream gene variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs9394021
rs9394021
1 1.000 0.080 6 30925350 missense variant G/A snv 0.29 0.23 0.010 1.000 1 2015 2015
dbSNP: rs763809932
rs763809932
1 1.000 0.080 2 178614110 missense variant G/A;T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs142346548
rs142346548
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17408553
rs17408553
2 0.925 0.080 6 31271630 missense variant G/A;T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs179009
rs179009
2 0.925 0.160 X 12885361 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs190589393
rs190589393
2 0.925 0.080 19 54818487 missense variant C/A snv 1.7E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2532932
rs2532932
2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs8105790
rs8105790
2 0.925 0.160 19 39241861 upstream gene variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs117648444
rs117648444
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1805012
rs1805012
3 0.882 0.280 16 27362643 missense variant T/C snv 9.6E-02 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs199473565
rs199473565
3 0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs3747206
rs3747206
3 0.882 0.160 22 43928850 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs757537938
rs757537938
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.020 1.000 2 2013 2017
dbSNP: rs10465885
rs10465885
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017