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: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 < 0.001 1 2010 2010
dbSNP: rs1385129
rs1385129
1 1.000 1 42943295 synonymous variant G/A;C snv 0.24; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28399499
rs28399499
6 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2015 2015
dbSNP: rs7127617
rs7127617
1 1.000 11 5680770 intron variant G/A snv 0.53 0.010 1.000 1 2018 2018