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: 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: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893811
rs104893811 		0.851 0.160 3 30674228 missense variant C/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104893811
rs104893811 		0.851 0.160 3 30674228 missense variant C/T snv
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs104893816
rs104893816 		0.882 0.120 3 30674229 missense variant G/A;T snv 4.0E-06
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
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: rs11466512
rs11466512 		1.000 0.160 3 30671634 splice region variant T/A;C snv 0.30
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: rs11466537
rs11466537 		1.000 3 30693684 3 prime UTR variant T/A snv 4.8E-02
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		0.010 1.000 1 2017 2017
dbSNP: rs1155705
rs1155705 		1.000 0.040 3 30644922 splice region variant A/G;T snv 0.37
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1206093523
rs1206093523 		1.000 0.080 3 30606915 missense variant C/T snv 9.2E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
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: 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: rs2228048
rs2228048 		0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02
CUI: C0023343
Disease: Leprosy
Leprosy 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs2228048
rs2228048 		0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3087465
rs3087465 		1.000 3 30605668 upstream gene variant A/G;T snv 0.64
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 < 0.001 1 2014 2014
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