Source: ALL
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: rs386834061
rs386834061
VPS13B
10 0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs757470958
rs757470958
CNGA3
1 2 98380207 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs61748538
rs61748538
ABCA4
2 1.000 1 94098904 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2001 2001
dbSNP: rs1356104318
rs1356104318
ABCA4
1 1 94098850 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs764759172
rs764759172
ABCA4
3 0.925 0.040 1 94080692 frameshift variant G/- del 0.700 1.000 1 2011 2011
dbSNP: rs61748552
rs61748552
ABCA4
2 1.000 1 94078611 missense variant G/C snv 8.0E-06 8.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs1553193813
rs1553193813
ABCA4
2 1.000 0.080 1 94077747 stop gained C/T snv 0.700 0
dbSNP: rs1553192726
rs1553192726
ABCA4
2 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs61751392
rs61751392
ABCA4
7 0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 0.700 1.000 1 1998 1998
dbSNP: rs61749409
rs61749409
ABCA4
4 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.710 1.000 2 1999 2014
dbSNP: rs878853396
rs878853396
ABCA4
1 1 94062641 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1553192432
rs1553192432
ABCA4
1 1 94060712 frameshift variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs76157638
rs76157638
ABCA4
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 2 1997 2019
dbSNP: rs869312184
rs869312184
ABCA4
1 1 94048898 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs149071415
rs149071415
ABCA4
1 1 94047024 missense variant A/G snv 4.0E-05 8.4E-05 0.700 0
dbSNP: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs61749451
rs61749451
ABCA4
3 0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.700 1.000 1 2001 2001
dbSNP: rs878853397
rs878853397
ABCA4
1 1 94043428 frameshift variant T/- delins 0.700 0
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 1.000 1 1997 1997
dbSNP: rs1553190559
rs1553190559
ABCA4
1 1 94042790 missense variant A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs61752419
rs61752419
ABCA4
1 1 94042786 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs764109067
rs764109067
ARL13B
6 0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs61750135
rs61750135
ABCA4
2 1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016