ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
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: rs4833407
rs4833407 		1.000 0.080 4 112390634 intron variant C/A;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs4834272
rs4834272 		4 112392830 intron variant T/C snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2019
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C4225670
Disease: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS 		0.700 1.000 1 2019 2019
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C0858613
Disease: Optic nerve oedema
Optic nerve oedema 		0.700 1.000 1 2019 2019
dbSNP: rs17604670
rs17604670 		1.000 0.120 4 112286121 intron variant C/T snv 9.2E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4833407
rs4833407 		1.000 0.080 4 112390634 intron variant C/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs59068084
rs59068084 		4 112335581 intron variant G/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7687819
rs7687819 		1.000 0.080 4 112408189 intron variant A/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1052954321
rs1052954321 		0.882 4 112427580 missense variant C/T snv
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.010 1.000 1 2019 2019
dbSNP: rs2074379
rs2074379 		1.000 4 112431743 missense variant G/A snv 0.62 0.65
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2074379
rs2074379 		1.000 4 112431743 missense variant G/A snv 0.62 0.65
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0.010 1.000 1 2015 2015
dbSNP: rs2074379
rs2074379 		1.000 4 112431743 missense variant G/A snv 0.62 0.65
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2074380
rs2074380 		4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2074380
rs2074380 		4 112432155 missense variant G/A;T snv 8.5E-03; 2.4E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381 		4 112432293 missense variant A/G snv 8.5E-03 5.5E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2074381
rs2074381 		4 112432293 missense variant A/G snv 8.5E-03 5.5E-03
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2074388
rs2074388 		1.000 4 112431241 missense variant G/A snv 0.62 0.65
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2074388
rs2074388 		1.000 4 112431241 missense variant G/A snv 0.62 0.65
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		0.010 1.000 1 2015 2015
dbSNP: rs2074388
rs2074388 		1.000 4 112431241 missense variant G/A snv 0.62 0.65
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015