rs62645748, CRB1

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.
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.800 1.000 26 1999 2017
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.800 1.000 20 1999 2017
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.710 1.000 1 2008 2008
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.700 1.000 1 1999 1999
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.700 1.000 1 2019 2019
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.700 0
Pigmented Paravenous Chorioretinal Atrophy
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
2 0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04 0.700 0