ABHD2, abhydrolase domain containing 2, 11057

N. diseases: 17; N. variants: 3
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: rs2283436
rs2283436
15 89188545 intron variant T/C snv 9.6E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4932480
rs4932480
1.000 0.040 15 89180627 intron variant T/C snv 0.53
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12442260
rs12442260
1.000 0.040 15 89113236 intron variant T/C snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2015 2015