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: rs61749423
rs61749423
ABCA4
3 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs61751404
rs61751404
ABCA4
4 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs61750130
rs61750130
ABCA4
7 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.010 < 0.001 1 2014 2014