rs137853006, PROM1

N. diseases: 11
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.
Bull's eye macular dystrophy
CUI: C0339512
Disease: Bull's eye macular dystrophy
1 0.776 0.080 4 16013299 missense variant G/A snv 0.800 1.000 1 2008 2008
CONE-ROD DYSTROPHY 12 (disorder)
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
6 0.776 0.080 4 16013299 missense variant G/A snv 0.800 1.000 1 2008 2008
Stargardt disease 4
CUI: C1863534
Disease: Stargardt disease 4
1 0.776 0.080 4 16013299 missense variant G/A snv 0.800 1.000 1 2008 2008
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.776 0.080 4 16013299 missense variant G/A snv 0.700 1.000 1 2019 2019
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.776 0.080 4 16013299 missense variant G/A snv 0.020 1.000 2 2010 2017
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.776 0.080 4 16013299 missense variant G/A snv 0.020 1.000 2 2010 2017
Cone dysfunction syndrome
CUI: C0543968
Disease: Cone dysfunction syndrome
2 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010