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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2004 2005
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2004 2005
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		Neoplasms 0.010 1.000 1 2005 2005
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: C0025202
Disease: melanoma
melanoma 		Neoplasms 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: 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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs139399785
rs139399785 		1.000 0.080 1 226380111 stop gained G/A;T snv 4.0E-06; 2.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2230484
rs2230484 		0.925 0.080 1 226383066 missense variant G/A snv 3.7E-03 3.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2230484
rs2230484 		0.925 0.080 1 226383066 missense variant G/A snv 3.7E-03 3.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145 		0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145 		0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145 		0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145 		0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 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: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3738708
rs3738708 		0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06
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: 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: 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: 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: 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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System 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: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009