rs76216585, POC1B

N. diseases: 9
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-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
3 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.800 1.000 3 2014 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
Hepatic Fibrosis, Congenital
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
2 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.020 1.000 2 2014 2014
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.020 1.000 2 2014 2014
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.020 1.000 2 2014 2014
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.010 1.000 1 2014 2014