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: 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: 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: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.080 1.000 8 2009 2019
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2008 2019
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2008 2019
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.060 0.833 6 2009 2017
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.060 0.833 6 2009 2017
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.050 0.800 5 2009 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.050 0.800 5 2009 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2012 2016
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2010 2014
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2012 2017
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2014 2019
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: 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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2017
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2018
dbSNP: rs1136410
rs1136410 		0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2013 2017
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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2012 2017