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: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 13 2010 2019
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2018 2019
dbSNP: rs1050171
rs1050171
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057519860
rs1057519860
5 0.851 0.080 7 55160316 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1282801317
rs1282801317
2 0.925 0.080 7 55143316 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs373129709
rs373129709
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs909797662
rs909797662
8 0.790 0.120 7 55191837 missense variant G/A snv 0.010 1.000 1 2016 2016