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: rs146180399
rs146180399 		0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs146180399
rs146180399 		0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs546772104
rs546772104 		6 139373448 missense variant G/A;T snv 5.0E-06; 5.0E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs563655306
rs563655306 		0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs563655306
rs563655306 		0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs755846060
rs755846060 		1.000 0.040 6 139373517 missense variant C/G snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs766774041
rs766774041 		1.000 6 139373176 missense variant T/C snv 2.8E-05 3.5E-05
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2017 2017