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: rs371228501
rs371228501
1 1.000 0.040 7 55191740 missense variant C/T snv 6.8E-05 1.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs7187167
rs7187167
2 1.000 0.040 16 1299208 upstream gene variant T/C snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs11553473
rs11553473
3 0.882 0.080 16 1314299 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121908690
rs121908690
2 0.925 0.080 1 46267540 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs12190287
rs12190287
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015