Disease: Retinitis Pigmentosa
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs281865192
CEP290
0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04 11
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs386834152
CEP290
0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 7
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 7
rs386834261
RDH12 ; GPHN ; ZFYVE26
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
rs62645752
CRB1
0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 3
rs754768875
USH2A ; LOC102723833
0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 3
rs1554125752
TULP1
0.925 0.080 6 35506146 frameshift variant -/G delins 2