rs104893793, RHO

N. diseases: 4
Source: CLINVAR ×
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 4
CUI: C3151001
Disease: Retinitis Pigmentosa 4
36 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.800 1.000 0 1990 2009
Night Blindness, Congenital Stationary, Autosomal Dominant 1
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
5 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1994 2011
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
30 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
420 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2019 2019