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: rs12743824
rs12743824
2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1977081
rs1977081
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs3761472
rs3761472
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.700 1.000 1 2013 2013
dbSNP: rs4823182
rs4823182
2 0.925 0.080 22 43981562 intron variant A/G snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs6006473
rs6006473
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 2 2013 2015
dbSNP: rs12447924
rs12447924
3 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12597002
rs12597002
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs2072907
rs2072907
3 0.882 0.120 22 43936773 intron variant C/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs2076211
rs2076211
3 1.000 22 43933198 intron variant C/A;T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2235776
rs2235776
3 0.925 0.040 22 43982119 intron variant C/T snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs2290602
rs2290602
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs72563732
rs72563732
3 0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs7643645
rs7643645
3 0.882 0.080 3 119806650 intron variant A/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2072906
rs2072906
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs903361
rs903361
4 0.882 0.160 1 203122146 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs951599607
rs951599607
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1461729
rs1461729
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs6601299
rs6601299
5 0.925 0.040 8 9327181 intron variant T/C snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs7946
rs7946
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.020 1.000 2 2007 2019