rs62635654, CRB1

N. diseases: 4
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 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.800 1.000 15 1999 2017
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 20 2001 2017
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 1 2018 2018
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 1 2019 2019