Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.800 1.000 0 2005 2012
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 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 7 2006 2015
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
Abnormal cardiac ventricle morphology 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.700 0