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: rs6678914
rs6678914
0.882 0.080 1 202218048 intron variant G/A snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2013 2016
dbSNP: rs6678914
rs6678914
0.882 0.080 1 202218048 intron variant G/A snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2013 2016
dbSNP: rs17489300
rs17489300
1.000 0.080 1 202209914 intron variant A/C snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1457668577
rs1457668577
1 202276458 missense variant C/T snv 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs561224262
rs561224262
1.000 0.040 1 202319158 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6678914
rs6678914
0.882 0.080 1 202218048 intron variant G/A snv 0.37
CUI: C0279563
Disease: Lobular carcinoma in situ of breast
Lobular carcinoma in situ of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs747112750
rs747112750
1.000 0.040 1 202307363 synonymous variant C/T snv 4.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs77340941
rs77340941
1 202318465 missense variant C/A;T snv 3.2E-04 1.2E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs866514672
rs866514672
1.000 0.080 1 202300917 missense variant C/T snv 8.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012