rs137852832, CEP290

N. diseases: 17
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.710 1.000 13 2006 2018
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 12 2006 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 12 2006 2016
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 1 2015 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 1.000 1 2019 2019
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Congenital blindness
CUI: C0005754
Disease: Congenital blindness
3 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Congenital nystagmus
CUI: C0700501
Disease: Congenital nystagmus
5 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
Retinal pigmentary degeneration
CUI: C1833999
Disease: Retinal pigmentary degeneration
1 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0