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: rs11154178
rs11154178
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs28485846
rs28485846
7 0.807 0.240 8 35265058 intron variant C/T snv 5.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs3761980
rs3761980
7 0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs71597855
rs71597855
7 0.807 0.240 4 53790270 intron variant G/A snv 2.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505
7 0.807 0.240 6 36030611 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3134069
rs3134069
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.020 0.500 2 2013 2015
dbSNP: rs121917832
rs121917832
3 0.925 0.200 12 12718066 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12778366
rs12778366
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs2073617
rs2073617
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2013 2013
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2015 2015