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: rs12493607
rs12493607 		0.882 0.080 3 30641447 intron variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 4 2013 2017
dbSNP: rs12493607
rs12493607 		0.882 0.080 3 30641447 intron variant G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2013 2014
dbSNP: rs1036095
rs1036095 		1.000 0.040 3 30620836 intron variant C/G snv 0.72
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1078985
rs1078985 		0.925 0.080 3 30649419 intron variant A/G snv 0.25
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: rs1078985
rs1078985 		0.925 0.080 3 30649419 intron variant A/G snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12493607
rs12493607 		0.882 0.080 3 30641447 intron variant G/C;T snv
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs13075948
rs13075948 		1.000 0.080 3 30642014 intron variant C/T snv 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs17025857
rs17025857 		1.000 0.080 3 30639603 intron variant A/G snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs17838698
rs17838698 		1.000 0.080 3 30643415 intron variant C/T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1962859
rs1962859 		1.000 0.080 3 30656417 intron variant A/G snv 0.16
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2276767
rs2276767 		1.000 0.160 3 30691329 intron variant C/A snv 0.23
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3773643
rs3773643 		3 30668751 intron variant A/G snv 0.19
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2007 2007
dbSNP: rs3773643
rs3773643 		3 30668751 intron variant A/G snv 0.19
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2007 2007
dbSNP: rs3773651
rs3773651 		1.000 0.040 3 30677040 intron variant A/G snv 3.9E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3773661
rs3773661 		0.925 0.080 3 30686798 intron variant G/C snv 0.14
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs3773661
rs3773661 		0.925 0.080 3 30686798 intron variant G/C snv 0.14
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs76495833
rs76495833 		1.000 0.040 3 30627911 intron variant C/G snv 1.8E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs9823731
rs9823731 		1.000 3 30641799 intron variant A/G snv 0.66
CUI: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1 		0.010 1.000 1 2014 2014
dbSNP: rs9838771
rs9838771 		3 30657290 intron variant G/A snv 2.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9838771
rs9838771 		3 30657290 intron variant G/A snv 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9838771
rs9838771 		3 30657290 intron variant G/A snv 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs104893819
rs104893819 		0.827 0.240 3 30688470 stop gained C/G;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 6 2006 2016
dbSNP: rs104893819
rs104893819 		0.827 0.240 3 30688470 stop gained C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 2004 2012
dbSNP: rs863223852
rs863223852 		0.882 0.120 3 30688476 stop gained C/A;T snv 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 2004 2017
dbSNP: rs397516840
rs397516840 		1.000 0.120 3 30688482 stop gained G/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2006 2006