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: rs1214285376
rs1214285376
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs148611340
rs148611340
7 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs199613843
rs199613843
6 0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2307191
rs2307191
5 0.827 0.120 19 43553616 missense variant G/A snv 1.2E-03 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs25490
rs25490
4 0.851 0.120 19 43552189 missense variant T/C snv 7.2E-03 2.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs72554204
rs72554204
5 0.827 0.120 19 43546062 missense variant C/T snv 1.2E-04 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.090 0.889 9 2012 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.933 15 2010 2017
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.929 14 2010 2017