Disease: Cone-Rod Dystrophies
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
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 8
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 6
rs281865377
ABCA4
0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 6
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 6
rs104893793
RHO
0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 4
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 4
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