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: rs139250920
rs139250920
ABCA4
1 1.000 0.080 1 94055212 missense variant G/A snv 1.7E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs886044720
rs886044720
ABCA4
2 0.925 0.080 1 94112973 missense variant A/C snv 0.010 1.000 1 2004 2004