rs111033272, USH2A

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 1.000 9 2004 2016
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 1.000 9 2004 2016
Abnormal macular morphology
CUI: C4520679
Disease: Abnormal macular morphology
3 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
obsolete Peripheral retinopathy
CUI: C4072867
Disease: obsolete Peripheral retinopathy
5 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0
Retinal pigment epithelial atrophy
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
4 0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05 0.700 0