rs121909398, CERKL

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.730 1.000 9 2004 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2004 2004
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 0
Retinal pigment epithelial atrophy
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
4 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 0
Retinitis Pigmentosa 26
CUI: C1842127
Disease: Retinitis Pigmentosa 26
9 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 0
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.010 1.000 1 2019 2019