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.
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.750 1.000 19 2002 2019
Bardet-Biedl syndrome 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.810 1.000 13 2002 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2019
Autosomal recessive retinitis pigmentosa
31 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1.000 1 2012 2012
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1 2015 2015
Cataract
CUI: C0086543
Disease: Cataract
124 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1 2015 2015
Dyschromatopsia
CUI: C0858618
Disease: Dyschromatopsia
1 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1 2015 2015
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1.000 1 2012 2012
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 1 2019 2019
Asthma
CUI: C0004096
Disease: Asthma
1536 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Biliary Atresia
CUI: C0005411
Disease: Biliary Atresia
32 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Childhood-onset truncal obesity
CUI: C1859846
Disease: Childhood-onset truncal obesity
4 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Curved toe phalanx
CUI: C4021330
Disease: Curved toe phalanx
1 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Delayed social development
CUI: C4022906
Disease: Delayed social development
1 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Gastrointestinal malrotation
CUI: C3808410
Disease: Gastrointestinal malrotation
2 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
11 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0