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: rs1553630221
rs1553630221 		1.000 3 30672234 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2005 2016
dbSNP: rs1553630221
rs1553630221 		1.000 3 30672234 missense variant G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2005 2016
dbSNP: rs1553631693
rs1553631693 		1.000 3 30688383 splice acceptor variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2006 2010
dbSNP: rs886039106
rs886039106 		1.000 3 30672361 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2013 2016
dbSNP: rs10212320
rs10212320 		3 30632373 non coding transcript exon variant C/T snv 7.2E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10212320
rs10212320 		3 30632373 non coding transcript exon variant C/T snv 7.2E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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: rs764821003
rs764821003 		3 30671823 missense variant G/A snv 1.4E-05
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs863223854
rs863223854 		1.000 3 30691459 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
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: rs1060501984
rs1060501984 		1.000 3 30691426 stop gained C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553630426
rs1553630426 		1.000 3 30674109 missense variant G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1559472349
rs1559472349 		1.000 3 30688433 frameshift variant CT/- del
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs35766612
rs35766612 		3 30672342 missense variant G/A;T snv 1.0E-03; 3.5E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs878854610
rs878854610 		1.000 3 30674121 missense variant A/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs878854611
rs878854611 		1.000 3 30691424 frameshift variant T/- del
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
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