MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 13; N. variants: 45
Source: CURATED ×
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: rs4141463
rs4141463 		0.925 0.040 20 14766825 intron variant T/C snv 0.50
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.820 0.667 1 2010 2019
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: 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: rs1041606
rs1041606 		20 14697142 intron variant C/T snv 0.21
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs10485775
rs10485775 		1.000 0.040 20 14707123 intron variant T/G snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11087114
rs11087114 		20 14931037 intron variant G/A;C snv
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11907538
rs11907538 		1.000 0.040 20 14709539 intron variant C/T snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11908097
rs11908097 		20 14708500 intron variant T/C snv 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11908351
rs11908351 		1.000 0.040 20 14705863 intron variant A/T snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13038351
rs13038351 		20 14486741 intron variant A/T snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs14135
rs14135 		1.000 0.040 20 14884510 non coding transcript exon variant T/C snv 0.26
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs1475531
rs1475531 		1.000 0.040 20 14886776 intron variant G/T snv 0.62
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs16996644
rs16996644 		20 15832830 intron variant C/G snv 0.13
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs16996657
rs16996657 		20 15835591 intron variant T/C snv 0.16
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs175804
rs175804 		20 15851654 intron variant A/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs17775664
rs17775664 		1.000 0.040 20 14707873 intron variant G/T snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1932952
rs1932952 		20 14701155 intron variant G/C snv 0.37
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs200744
rs200744 		20 15613722 intron variant C/T snv 0.12
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.700 1.000 1 2011 2011
dbSNP: rs200752
rs200752 		20 15618886 intron variant G/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs200759
rs200759 		20 15625776 intron variant T/C snv 0.12
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2423958
rs2423958 		20 15365019 intron variant C/A snv 0.49
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs398124651
rs398124651 		1.000 20 14327217 missense variant T/C snv
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: rs398124652
rs398124652 		1.000 20 14327076 missense variant C/A snv
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: 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: 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