rs150726175, NMNAT1

N. diseases: 11
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.
LEBER CONGENITAL AMAUROSIS 9 (disorder)
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
22 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.810 1.000 12 2012 2018
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.720 1.000 7 2012 2018
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Severe visual impairment
CUI: C1301509
Disease: Severe visual impairment
9 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.010 1.000 1 2014 2014
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.010 1.000 1 2014 2014