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: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 4 2017 2019
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 3 2016 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2306363
rs2306363 		11 65638129 5 prime UTR variant G/T snv 0.15
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2448490
rs2448490 		11 65644564 intron variant G/A snv 0.28
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs3782086
rs3782086 		11 65639398 intron variant C/T snv 0.14
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.333 3 2009 2014
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.333 3 2009 2014
dbSNP: rs746429
rs746429 		0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2006 2013
dbSNP: rs746429
rs746429 		0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2009 2014
dbSNP: rs746429
rs746429 		0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2009 2014
dbSNP: rs931127
rs931127 		0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 < 0.001 3 2009 2014
dbSNP: rs931127
rs931127 		0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 < 0.001 3 2009 2014
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2006 2009
dbSNP: rs931127
rs931127 		0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2010 2013
dbSNP: rs2306364
rs2306364 		11 65644996 synonymous variant G/A;C;T snv 0.39; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3741378
rs3741378 		0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2013 2013
dbSNP: rs746429
rs746429 		0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010