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: rs121918567
rs121918567
6 0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2003 2012
dbSNP: rs104893793
rs104893793
RHO
4 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121909398
rs121909398
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs150115958
rs150115958
3 0.882 0.160 11 67457677 stop gained C/A;T snv 5.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs1762111
rs1762111
5 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs201471607
rs201471607
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
dbSNP: rs397515360
rs397515360
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs397517994
rs397517994
3 0.882 0.200 1 215640615 stop gained G/A snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs483353055
rs483353055
6 0.827 0.200 1 216200031 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs62625014
rs62625014
4 0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs76157638
rs76157638
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs886042153
rs886042153
2 0.925 0.160 12 88106770 stop gained G/A snv 1.2E-05 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs1057517694
rs1057517694
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs137853041
rs137853041
2 0.925 0.080 8 39017298 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs147118493
rs147118493
2 0.925 0.160 2 98370077 splice donor variant G/A snv 2.6E-04; 8.0E-06 1.4E-04 0.700 0
dbSNP: rs1557110499
rs1557110499
2 0.925 0.080 X 49228311 inframe deletion AAG/- delins 0.700 0
dbSNP: rs200691042
rs200691042
5 0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 0.700 0
dbSNP: rs2723341
rs2723341
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 0
dbSNP: rs281865377
rs281865377
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 0
dbSNP: rs28940314
rs28940314
2 0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 0
dbSNP: rs398123044
rs398123044
3 0.882 0.080 4 13381577 stop gained G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs544616523
rs544616523
1 1.000 0.080 20 3912539 frameshift variant T/- del 8.0E-06 7.0E-06 0.700 0
dbSNP: rs750740765
rs750740765
1 1.000 0.080 15 71812486 frameshift variant TC/- delins 1.2E-05 7.0E-06 0.700 0