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: rs1407019
rs1407019
1 1.000 0.120 20 33237991 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1536826
rs1536826
1 1.000 0.120 10 133543735 intron variant A/C snv 0.62 0.010 1.000 1 2009 2009
dbSNP: rs1572072
rs1572072
2 1.000 0.120 13 23553071 intergenic variant G/T snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs1610588
rs1610588
1 1.000 0.120 6 29708939 upstream gene variant C/T snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1610742
rs1610742
1 1.000 0.120 6 29710175 upstream gene variant T/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs169111
rs169111
1 1.000 0.120 3 37474042 intron variant C/T snv 0.84 0.700 1.000 1 2009 2009
dbSNP: rs169188
rs169188
1 1.000 0.120 3 37465958 intron variant G/A snv 7.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs17046583
rs17046583
1 1.000 0.120 2 55001811 intron variant A/G snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs197757
rs197757
1 1.000 0.120 3 37481337 intron variant G/A snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs200046052
rs200046052
2 1.000 0.120 3 49902693 missense variant C/G;T snv 1.8E-04; 3.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2074517
rs2074517
1 1.000 0.120 17 34997659 non coding transcript exon variant T/C snv 2.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs2212020
rs2212020
1 1.000 0.120 3 37475971 intron variant C/T snv 0.34 0.710 1.000 1 2009 2009
dbSNP: rs2269432
rs2269432
3 0.882 0.120 3 50296800 missense variant T/A;G snv 0.13 0.010 1.000 1 2004 2004
dbSNP: rs2275531
rs2275531
1 1.000 0.120 1 206935771 missense variant C/G;T snv 0.38 0.010 1.000 1 2003 2003
dbSNP: rs2279244
rs2279244
1 1.000 0.120 12 75502884 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs2305806
rs2305806
2 1.000 0.120 19 6754996 synonymous variant T/C snv 0.30 0.35 0.010 1.000 1 2014 2014
dbSNP: rs232228
rs232228
1 1.000 0.120 2 88859459 intron variant G/A snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs232230
rs232230
1 1.000 0.120 2 88857435 missense variant C/G snv 0.14 0.17 0.010 1.000 1 2008 2008
dbSNP: rs258322
rs258322
3 0.925 0.120 16 89689495 intron variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2588519
rs2588519
1 1.000 0.120 2 54977988 intron variant T/C snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs2735845
rs2735845
1 1.000 0.120 5 1300469 intergenic variant C/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs291102
rs291102
1 1.000 0.120 1 206933133 missense variant G/A;C snv 0.10 0.010 1.000 1 2003 2003
dbSNP: rs2920891
rs2920891
1 1.000 0.120 2 55080901 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs29218
rs29218
1 1.000 0.120 6 29639652 upstream gene variant A/G snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs2975042
rs2975042
1 1.000 0.120 6 29952759 upstream gene variant G/A;T snv 0.700 1.000 1 2009 2009