ABI3, ABI family member 3, 51225

N. diseases: 27; 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: rs850526
rs850526 		1.000 0.040 17 49208404 intron variant T/C snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs616338
rs616338 		0.925 0.080 17 49219935 missense variant T/C snv 0.99 0.99
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2017 2018
dbSNP: rs16947151
rs16947151 		0.882 0.080 17 49213276 intron variant A/G snv 0.12
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs16947151
rs16947151 		0.882 0.080 17 49213276 intron variant A/G snv 0.12
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs16947151
rs16947151 		0.882 0.080 17 49213276 intron variant A/G snv 0.12
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs16947151
rs16947151 		0.882 0.080 17 49213276 intron variant A/G snv 0.12
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs616338
rs616338 		0.925 0.080 17 49219935 missense variant T/C snv 0.99 0.99
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018