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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2008 2008
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs13180356
rs13180356
2 0.925 0.080 5 83100055 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3748522
rs3748522
2 0.925 0.080 12 949522 5 prime UTR variant A/C snv 0.49 0.010 1.000 1 2015 2015