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: rs1805407
rs1805407 		1 226402132 missense variant T/A;C snv 4.1E-06; 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1805407
rs1805407 		1 226402132 missense variant T/A;C snv 4.1E-06; 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs201841505
rs201841505 		1 226392215 missense variant A/G snv 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs3219060
rs3219060 		1 226384782 intron variant G/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3219060
rs3219060 		1 226384782 intron variant G/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs752307
rs752307 		1 226363828 intron variant C/A;G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3219090
rs3219090 		1.000 0.040 1 226376990 intron variant T/C snv 0.58
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.820 1.000 2 2011 2013
dbSNP: rs1805410
rs1805410 		1.000 0.040 1 226380964 intron variant T/C snv 0.13
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3219125
rs3219125 		1.000 0.040 1 226367250 non coding transcript exon variant T/C snv 5.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1805414
rs1805414 		0.925 0.080 1 226385663 synonymous variant A/G snv 0.43 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2007 2018
dbSNP: rs1805414
rs1805414 		0.925 0.080 1 226385663 synonymous variant A/G snv 0.43 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2007 2018
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: rs2077197
rs2077197 		0.925 0.080 1 226408338 upstream gene variant C/G;T snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2077197
rs2077197 		0.925 0.080 1 226408338 upstream gene variant C/G;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: rs2271347
rs2271347 		1.000 0.080 1 226361797 non coding transcript exon variant G/A snv 0.16
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2271347
rs2271347 		1.000 0.080 1 226361797 non coding transcript exon variant G/A snv 0.16
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3219073
rs3219073 		0.882 0.080 1 226381674 intron variant G/C snv 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3219073
rs3219073 		0.882 0.080 1 226381674 intron variant G/C snv 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3219073
rs3219073 		0.882 0.080 1 226381674 intron variant G/C snv 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3738708
rs3738708 		0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2012 2012
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: rs3738708
rs3738708 		0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs4653734
rs4653734 		0.925 0.080 1 226407688 intron variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019