MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 57; N. variants: 47
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: rs398124653
rs398124653 		1.000 20 14327302 missense variant G/T snv 2.8E-05 2.1E-05
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.700 1.000 1 2013 2013
dbSNP: rs398124654
rs398124654 		1.000 20 14326491 missense variant T/C snv
CUI: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		0.800 1.000 1 2013 2013
dbSNP: rs401599
rs401599 		20 14830831 intron variant A/C snv 0.44
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4141463
rs4141463 		0.925 0.040 20 14766825 intron variant T/C snv 0.50
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs465757
rs465757 		20 15599638 intron variant G/A snv 0.60
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6034019
rs6034019 		20 14722269 intron variant A/G snv 0.68
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6034146
rs6034146 		20 15293250 intron variant A/C snv 0.60
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs6042935
rs6042935 		20 14816926 intron variant A/G snv 8.2E-02
CUI: C0201534
Disease: Antiphospholipid antibodies measurement
Antiphospholipid antibodies measurement 		0.700 1.000 1 2016 2016
dbSNP: rs6043189
rs6043189 		1.000 0.040 20 15300687 intron variant A/G snv 0.47
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6043194
rs6043194 		1.000 0.040 20 15301802 intron variant G/A snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6043200
rs6043200 		20 15314273 intron variant G/A snv 0.33
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6074798
rs6074798 		20 14781064 intron variant G/A snv 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs6079463
rs6079463 		1.000 0.040 20 14495111 intron variant A/G snv 0.26
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs6079468
rs6079468 		1.000 0.040 20 14517750 intron variant A/C;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs6105452
rs6105452 		20 15683126 intron variant C/T snv 0.10
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		Infections 0.700 1.000 1 2017 2017
dbSNP: rs6110278
rs6110278 		20 14407569 intron variant C/T snv 0.27
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 1 2009 2009
dbSNP: rs6110458
rs6110458 		1.000 0.040 20 14882326 intron variant C/T snv 0.25
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs6110524
rs6110524 		1.000 0.080 20 15130492 intron variant A/G snv 0.88
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6110809
rs6110809 		0.925 0.120 20 15870432 intron variant A/G snv 0.67
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6110809
rs6110809 		0.925 0.120 20 15870432 intron variant A/G snv 0.67
CUI: C3495928
Disease: Thyroid associated orbitopathy
Thyroid associated orbitopathy 		0.010 1.000 1 2016 2016
dbSNP: rs6135224
rs6135224 		20 14697004 intron variant A/G snv 0.34
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs6135385
rs6135385 		20 15324612 intron variant C/A snv 0.17
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs73898513
rs73898513 		20 15825565 intron variant C/G;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs743134
rs743134 		20 14824318 intron variant G/A snv 0.44
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs765488291
rs765488291 		20 14138930 intron variant G/A snv 1.7E-04
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2017 2017