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: rs1558373252
rs1558373252
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs1057519436
rs1057519436
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs386834070
rs386834070
9 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
dbSNP: rs864321670
rs864321670
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs375817528
rs375817528
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs1445287184
rs1445287184
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs1217391623
rs1217391623
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs1555475794
rs1555475794
7 0.925 0.120 16 682729 3 prime UTR variant T/C snv 0.700 0
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0