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: rs104893811
rs104893811 		0.851 0.160 3 30674228 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 2005 2016
dbSNP: rs104893815
rs104893815 		0.851 0.240 3 30691478 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 7 2005 2014
dbSNP: rs886039551
rs886039551 		0.882 0.120 3 30674186 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 7 2006 2014
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: 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: rs104893809
rs104893809 		0.882 0.120 3 30691504 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2004 2011
dbSNP: rs104893810
rs104893810 		0.790 0.360 3 30691477 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 4 2005 2012
dbSNP: rs104893816
rs104893816 		0.882 0.120 3 30674229 missense variant G/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 4 2005 2011
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: 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: rs1553630457
rs1553630457 		0.882 0.240 3 30674231 missense variant T/C snv
CUI: C0239815
Disease: Hand clenching
Hand clenching 		0.700 1.000 1 2017 2017
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: 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: rs104893807
rs104893807 		0.925 0.120 3 30674196 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0