INO80, INO80 complex ATPase subunit, 54617

N. diseases: 29; N. variants: 11
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: rs75322822
rs75322822 		15 41064241 intron variant G/A snv 1.5E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs112925537
rs112925537 		15 41042015 intron variant -/C ins
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs112925537
rs112925537 		15 41042015 intron variant -/C ins
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs2925345
rs2925345 		15 41019601 intron variant T/C snv 0.42
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2928148
rs2928148 		15 41109352 intron variant G/A snv 0.44
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs2928148
rs2928148 		15 41109352 intron variant G/A snv 0.44
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2928148
rs2928148 		15 41109352 intron variant G/A snv 0.44
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2928148
rs2928148 		15 41109352 intron variant G/A snv 0.44
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs34153025
rs34153025 		15 41047499 missense variant T/C snv 1.4E-02 1.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs35077430
rs35077430 		15 41041835 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTTTTTT delins
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs476633
rs476633 		15 41099936 intron variant C/G snv 0.52
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs476633
rs476633 		15 41099936 intron variant C/G snv 0.52
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs6492982
rs6492982 		15 41107753 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs9796
rs9796 		15 40979249 3 prime UTR variant A/T snv 0.36
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs199722402
rs199722402 		0.925 0.120 15 40987186 missense variant C/T snv 3.1E-04 8.4E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs199722402
rs199722402 		0.925 0.120 15 40987186 missense variant C/T snv 3.1E-04 8.4E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs199722402
rs199722402 		0.925 0.120 15 40987186 missense variant C/T snv 3.1E-04 8.4E-04
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882226
rs730882226 		0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882226
rs730882226 		0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs730882226
rs730882226 		0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0