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: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.720 1.000 15 2006 2018
dbSNP: rs104894490
rs104894490
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs768823392
rs768823392
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 1.000 1 2017 2017
dbSNP: rs864622269
rs864622269
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs786200949
rs786200949
4 0.851 0.120 2 240788208 missense variant G/A snv 0.700 0
dbSNP: rs116171274
rs116171274
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.710 1.000 2 2016 2017
dbSNP: rs121908613
rs121908613
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.710 1.000 2 2016 2017
dbSNP: rs312262720
rs312262720
5 0.882 0.120 15 44657230 frameshift variant AT/- del 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs587777132
rs587777132
3 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs878854991
rs878854991
5 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs760818649
rs760818649
2 0.925 0.080 16 89531963 frameshift variant C/-;CC delins 0.700 1.000 6 2008 2017
dbSNP: rs66468541
rs66468541
4 0.925 0.080 2 197497275 missense variant C/T snv 0.020 1.000 2 2008 2019
dbSNP: rs1085307110
rs1085307110
EPHB1 ; CEP63 ; KY
3 0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins 0.700 1.000 1 2017 2017
dbSNP: rs1553316816
rs1553316816
2 0.925 0.080 2 32126982 missense variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1555177629
rs1555177629
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs200133991
rs200133991
3 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs367916692
rs367916692
2 0.925 0.080 8 64596914 missense variant G/A snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs372702043
rs372702043
APP
2 0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs387907288
rs387907288
2 0.925 0.080 12 57569275 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs398123012
rs398123012
2 0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs398123015
rs398123015
2 0.925 0.080 9 35737335 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs587777757
rs587777757
2 0.925 0.080 2 32128450 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs768136171
rs768136171
2 0.925 0.080 16 89529489 frameshift variant TG/- delins 8.0E-06 2.1E-05 0.700 1.000 1 1998 1998
dbSNP: rs750663981
rs750663981
2 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0
dbSNP: rs1265011107
rs1265011107
3 1.000 0.080 1 27283372 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019