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: rs146054764
rs146054764
4 0.882 0.160 1 15506000 missense variant T/G snv 1.4E-03; 8.0E-06 1.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs747141352
rs747141352
3 0.882 0.160 8 127736607 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs923910999
rs923910999
3 0.882 0.160 20 63667537 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519953
rs1057519953
8 0.807 0.200 3 49375576 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs397518423
rs397518423
10 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2012 2012