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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2003 2003
dbSNP: rs114251396
rs114251396
1 1.000 0.120 16 2089813 missense variant G/A snv 3.7E-03 3.3E-03 0.700 0
dbSNP: rs199476095
rs199476095
2 0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06 0.700 0
dbSNP: rs1555444249
rs1555444249
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs115538130
rs115538130
1 1.000 0.120 16 2090179 missense variant G/A;T snv 9.3E-04; 4.2E-06 0.700 0
dbSNP: rs1282668884
rs1282668884
1 1.000 0.120 16 2090191 missense variant G/A snv 0.700 1.000 20 1996 2009
dbSNP: rs199476102
rs199476102
1 1.000 0.120 16 2090309 stop gained C/T snv 0.700 0
dbSNP: rs1060499718
rs1060499718
1 1.000 0.120 16 2090418 frameshift variant CA/- delins 0.700 0
dbSNP: rs199476097
rs199476097
1 1.000 0.120 16 2090468 stop gained A/T snv 0.700 0
dbSNP: rs1567146946
rs1567146946
1 1.000 0.120 16 2090508 frameshift variant GGTAG/- delins 0.700 0
dbSNP: rs199476094
rs199476094
1 1.000 0.120 16 2090688 stop gained G/A snv 0.700 0
dbSNP: rs142768096
rs142768096
1 1.000 0.120 16 2090717 missense variant C/A;T snv 6.1E-05; 1.2E-04 0.700 1.000 20 1996 2009
dbSNP: rs1218054241
rs1218054241
1 1.000 0.120 16 2090776 stop gained C/A;T snv 4.1E-06 0.700 0
dbSNP: rs1555444985
rs1555444985
1 1.000 0.120 16 2090781 stop gained G/A snv 0.700 0
dbSNP: rs886040959
rs886040959
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs1555445585
rs1555445585
1 1.000 0.120 16 2091571 frameshift variant TG/- delins 0.700 0
dbSNP: rs199476096
rs199476096
1 1.000 0.120 16 2091806 stop gained G/A snv 0.700 0
dbSNP: rs199476098
rs199476098
1 1.000 0.120 16 2091861 stop gained G/T snv 4.2E-06 0.700 0
dbSNP: rs1555445740
rs1555445740
1 1.000 0.120 16 2091865 missense variant C/T snv 0.700 0
dbSNP: rs1567153758
rs1567153758
1 1.000 0.120 16 2092079 frameshift variant C/- delins 0.700 0
dbSNP: rs1555445999
rs1555445999
1 1.000 0.120 16 2092113 frameshift variant -/CGTAATC delins 0.700 0
dbSNP: rs1555446033
rs1555446033
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs1555446053
rs1555446053
1 1.000 0.120 16 2092152 frameshift variant TG/- delins 0.700 0
dbSNP: rs369825780
rs369825780
1 1.000 0.120 16 2092181 stop gained G/A;C snv 1.8E-05 0.700 0
dbSNP: rs1567154953
rs1567154953
1 1.000 0.120 16 2092486 inframe deletion CACCTGCCGCAGCCG/- delins 0.700 0