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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.060 1.000 6 2013 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 1.000 3 2009 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 1.000 3 2009 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.030 1.000 3 2009 2019
dbSNP: rs1194653703
rs1194653703
2 0.925 0.040 8 140659663 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121913428
rs121913428
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1302295057
rs1302295057
2 0.925 0.040 7 55201284 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1395763398
rs1395763398
MET
2 0.925 0.040 7 116795891 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs762515280
rs762515280
2 0.925 0.040 8 140659497 missense variant A/C;G snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009