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

N. diseases: 565; N. variants: 23
Disease: Malignant neoplasm of breast ×
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.667 6 2008 2019
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: rs1805404
rs1805404 		0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
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: 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
dbSNP: rs8679
rs8679 		0.790 0.200 1 226360853 3 prime UTR variant A/G snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs907187
rs907187 		0.925 0.080 1 226407946 5 prime UTR variant C/G;T snv 0.21; 4.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019