SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: MYOPIA 6 (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315511
rs74315511 		0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.800 1.000 3 2013 2015
dbSNP: rs370130010
rs370130010 		1.000 0.040 22 50524078 missense variant G/A;T snv 4.8E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.700 1.000 3 2013 2015
dbSNP: rs145100473
rs145100473 		1.000 0.040 22 50524071 missense variant C/T snv 8.3E-04 7.6E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs375954523
rs375954523 		1.000 0.040 22 50524054 missense variant G/A;T snv 8.0E-05; 4.0E-06
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs74315510
rs74315510 		0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs8139305
rs8139305 		1.000 0.040 22 50523636 missense variant G/A;T snv 2.4E-03; 4.0E-06
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		Eye Diseases 0.700 0