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: rs2129979
rs2129979
1 1.000 0.080 4 110799841 downstream gene variant T/G snv 0.39 0.710 1.000 2 2017 2019
dbSNP: rs1191926239
rs1191926239
7 0.807 0.200 9 117704539 missense variant C/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs223888
rs223888
1 1.000 0.080 16 57357856 upstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2020 2020
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs7529229
rs7529229
8 0.851 0.120 1 154448302 intron variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs754342091
rs754342091
7 0.790 0.200 9 117712421 missense variant A/G snv 3.2E-05 1.4E-05 0.010 1.000 1 2004 2004