PARP1, poly(ADP-ribose) polymerase 1, 142

N. diseases: 565; N. variants: 23
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: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0028960
Disease: Oligospermia
Oligospermia 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0085437
Disease: Meningitis, Bacterial
Meningitis, Bacterial 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0856738
Disease: Triple vessel disease
Triple vessel disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2009 2009
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2009 2009
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2009 2009