Gene: ABCA4 ×
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: rs481931
rs481931
ABCA4
3 0.882 0.120 1 94104460 intron variant G/T snv 0.32 0.800 1.000 2 2010 2017
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.710 0.500 2 2010 2012
dbSNP: rs4147812
rs4147812
ABCA4
1 1.000 0.080 1 94109487 intron variant A/C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs952499
rs952499
ABCA4
1 1.000 0.080 1 94092869 intron variant T/C snv 0.45 0.700 1.000 2 2010 2012
dbSNP: rs2151846
rs2151846
ABCA4
1 1.000 0.080 1 94122131 upstream gene variant T/G snv 0.41 0.700 1.000 1 2010 2010
dbSNP: rs3789432
rs3789432
ABCA4
2 0.925 0.080 1 94109752 intron variant T/C snv 0.33 0.700 1.000 1 2010 2010
dbSNP: rs3789451
rs3789451
ABCA4
1 1.000 0.080 1 94120772 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3789452
rs3789452
ABCA4
1 1.000 0.080 1 94121945 upstream gene variant T/A snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs3827712
rs3827712
ABCA4
1 1.000 0.080 1 94109615 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs4147811
rs4147811
ABCA4
1 1.000 0.080 1 94109500 intron variant C/T snv 0.33 0.700 1.000 1 2010 2010
dbSNP: rs4147816
rs4147816
ABCA4
1 1.000 0.080 1 94109224 intron variant C/T snv 0.33 0.700 1.000 1 2010 2010
dbSNP: rs570926
rs570926
ABCA4
1 1.000 0.080 1 94104662 intron variant T/C snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs66515264
rs66515264
ABCA4
3 0.882 0.120 1 94092554 intron variant G/A;T snv 0.700 1.000 1 2017 2017