AK5, adenylate kinase 5, 26289

N. diseases: 13; N. variants: 9
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: rs11162351
rs11162351 		1 77479047 intron variant C/G snv 0.31
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12049202
rs12049202 		1 77501838 intron variant C/T snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12729914
rs12729914 		1 77514550 intron variant T/C snv 0.17
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12754946
rs12754946 		1.000 0.040 1 77524238 intron variant T/C snv 0.31
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2004962
rs2004962 		0.925 0.040 1 77280560 upstream gene variant G/C snv 9.9E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2004962
rs2004962 		0.925 0.040 1 77280560 upstream gene variant G/C snv 9.9E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6695572
rs6695572 		1.000 0.080 1 77479950 intron variant G/A snv 0.14
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs71658797
rs71658797 		0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs71658797
rs71658797 		0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs71658797
rs71658797 		0.925 0.080 1 77501822 intron variant T/A snv 7.3E-02
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2019 2019
dbSNP: rs7517698
rs7517698 		1.000 0.080 1 77283678 intron variant G/A;C;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs7536433
rs7536433 		1 77557488 intron variant C/A;T snv 0.20
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019