Disease: Macular dystrophy
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 8
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 8
rs281865377
ABCA4
0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 6
rs62645944
ABCA4
0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 6
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 5
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 4
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 4
rs104893967
GUCA1A
0.827 0.080 6 42178374 missense variant A/G snv 3
rs398122391
COL18A1 ; SLC19A1
0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 3
rs61755793
PRPH2
0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 3
rs62635654
CRB1
0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 3