ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
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: rs141772938
rs141772938 		1.000 22 41507837 missense variant C/G snv 3.7E-03 3.8E-03
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014
dbSNP: rs752034900
rs752034900 		1.000 22 41527315 missense variant G/A snv 4.0E-06
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014
dbSNP: rs727563
rs727563 		1.000 0.040 22 41471373 intron variant C/T snv 0.59
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs117078955
rs117078955 		1.000 0.080 22 41501983 intron variant C/T snv 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9611602
rs9611602 		22 41512401 intron variant T/C snv 0.19
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019