rs28937873, NR2E3

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.
Enhanced S-Cone Syndrome
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
21 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.820 1.000 11 2000 2014
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.710 1.000 2 2009 2019
Goldmann-Favre syndrome (disorder)
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
2 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.700 1.000 15 2000 2017
RETINITIS PIGMENTOSA 37 (disorder)
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
6 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.700 1.000 9 2000 2013
Macular retinoschisis
CUI: C0339462
Disease: Macular retinoschisis
1 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.010 1.000 1 2009 2009
Metamorphopsia
CUI: C0271185
Disease: Metamorphopsia
1 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.010 1.000 1 2009 2009
Posterior subcapsular cataract
CUI: C0858617
Disease: Posterior subcapsular cataract
9 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.010 1.000 1 2009 2009