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: rs1554524697
rs1554524697
1 1.000 0.080 8 64615168 frameshift variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1555394376
rs1555394376
1 1.000 0.080 14 67762275 frameshift variant -/A delins 0.700 1.000 1 2017 2017
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: 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
dbSNP: rs537742207
rs537742207
3 1.000 0.080 7 76054974 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587777757
rs587777757
2 0.925 0.080 2 32128450 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs770388772
rs770388772
1 1.000 0.080 2 32136629 missense variant A/G snv 0.010 1.000 1 2006 2006
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: rs763958615
rs763958615
1 1.000 0.080 8 37753994 missense variant A/G;T snv 8.0E-06 0.700 1.000 1 2017 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: rs760818649
rs760818649
2 0.925 0.080 16 89531963 frameshift variant C/-;CC delins 0.700 1.000 6 2008 2017
dbSNP: rs1266102026
rs1266102026
1 1.000 0.080 2 86282217 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2017 2017
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: rs66468541
rs66468541
4 0.925 0.080 2 197497275 missense variant C/T snv 0.020 1.000 2 2008 2019
dbSNP: rs1313275799
rs1313275799
2 1.000 0.080 15 51002561 stop gained C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1555177629
rs1555177629
2 0.925 0.120 12 57567514 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555177824
rs1555177824
1 1.000 0.080 12 57569269 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: rs398123015
rs398123015
2 0.925 0.080 9 35737335 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs562890289
rs562890289
1 1.000 0.080 16 89544770 stop gained C/T snv 1.2E-05 3.5E-05 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: rs897755799
rs897755799
1 1.000 0.080 8 144506618 missense variant C/T snv 1.9E-05 7.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1331686243
rs1331686243
1 1.000 0.080 15 22812234 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1377512692
rs1377512692
APP
1 1.000 0.080 21 25905062 missense variant G/A snv 0.010 1.000 1 2018 2018