Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1179299518
rs1179299518
PARP1
1.000 0.120 1 226386379 missense variant G/A;T snv 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2011 2011
dbSNP: rs139399785
rs139399785
PARP1
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 		0.010 1.000 1 2007 2007
dbSNP: rs1805404
rs1805404
PARP1
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 		0.010 < 0.001 1 2013 2013
dbSNP: rs1805404
rs1805404
PARP1
0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1805404
rs1805404
PARP1
0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1805407
rs1805407
PARP1
1 226402132 missense variant T/A;C snv 4.1E-06; 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1805407
rs1805407
PARP1
1 226402132 missense variant T/A;C snv 4.1E-06; 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs201841505
rs201841505
PARP1
1 226392215 missense variant A/G snv 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs2077197
rs2077197
PARP1
0.925 0.080 1 226408338 upstream gene variant C/G;T snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs2077197
rs2077197
PARP1
0.925 0.080 1 226408338 upstream gene variant C/G;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3219060
rs3219060
PARP1
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
PARP1
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: rs3219145
rs3219145
PARP1
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 		0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145
PARP1
0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145
PARP1
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 		0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145
PARP1
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 		0.010 1.000 1 2007 2007
dbSNP: rs4653734
rs4653734
PARP1
0.925 0.080 1 226407688 intron variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs4653734
rs4653734
PARP1
0.925 0.080 1 226407688 intron variant C/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs752307
rs752307
PARP1
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: rs907187
rs907187
PARP1
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 		0.010 1.000 1 2019 2019
dbSNP: rs907187
rs907187
PARP1
0.925 0.080 1 226407946 5 prime UTR variant C/G;T snv 0.21; 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs3738708
rs3738708
PARP1
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 		0.010 < 0.001 1 2012 2012
dbSNP: rs3738708
rs3738708
PARP1
0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		0.010 1.000 1 2008 2008
dbSNP: rs3738708
rs3738708
PARP1
0.925 0.080 1 226402338 missense variant G/A;C snv 7.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs2230484
rs2230484
PARP1
0.925 0.080 1 226383066 missense variant G/A snv 3.7E-03 3.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007