rs202126574, RDH12;GPHN

N. diseases: 3
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.
LEBER CONGENITAL AMAUROSIS 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05 0.700 0
RETINITIS PIGMENTOSA 53
CUI: C3150208
Disease: RETINITIS PIGMENTOSA 53
1 0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05 0.700 0