rs869025222, RARB

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.
MICROPHTHALMIA, SYNDROMIC 12
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
6 0.827 0.240 3 25580574 missense variant T/C snv 0.700 1.000 1 2016 2016
Breath-holding spell
CUI: C0476287
Disease: Breath-holding spell
2 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Congenital malrotation of intestine
CUI: C0221210
Disease: Congenital malrotation of intestine
5 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Severe gastroesophageal reflux
CUI: C1857946
Disease: Severe gastroesophageal reflux
1 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0