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: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 1 2016 2016
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 2016 2016
dbSNP: rs864309706
rs864309706
CRX
1 19 47839516 stop gained C/G snv 0.700 0
dbSNP: rs864309707
rs864309707
CRX
1 19 47839724 frameshift variant C/- delins 0.700 0
dbSNP: rs864309708
rs864309708
CRX
1 19 47839728 frameshift variant T/- del 0.700 0