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: rs1064794259
rs1064794259
2 1.000 0.080 19 11113615 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4646156
rs4646156
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs770696696
rs770696696
2 1.000 0.080 19 11113738 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1555512158
rs1555512158
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs1555513085
rs1555513085
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555514089
rs1555514089
4 0.925 0.200 16 16187213 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555514467
rs1555514467
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555520991
rs1555520991
5 0.925 0.200 16 16212248 splice acceptor variant T/C snv 0.700 0
dbSNP: rs199473620
rs199473620
2 1.000 0.080 3 38554372 stop gained C/A;T snv 0.700 0
dbSNP: rs28939702
rs28939702
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs60791294
rs60791294
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63750410
rs63750410
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0
dbSNP: rs63750428
rs63750428
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
dbSNP: rs63750622
rs63750622
9 0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs63750759
rs63750759
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs63751001
rs63751001
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs63751111
rs63751111
7 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0
dbSNP: rs66492417
rs66492417
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
dbSNP: rs72650700
rs72650700
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs72653769
rs72653769
6 1.000 0.160 16 16190315 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs72653783
rs72653783
7 1.000 0.160 16 16182566 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs72653784
rs72653784
5 1.000 0.160 16 16182562 missense variant C/A;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs72664203
rs72664203
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0