rs121434631, GUCA1A

N. diseases: 6
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.
CONE DYSTROPHY 3 (disorder)
CUI: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
6 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.800 0
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Photoreceptor degeneration
CUI: C1998028
Disease: Photoreceptor degeneration
16 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
RETINAL CONE DYSTROPHY 1
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
6 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2005 2005
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013