Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
T 0.800 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
T 0.800 CausalMutation CLINVAR
dbSNP: rs113605875
rs113605875
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
A 0.800 CausalMutation CLINVAR
dbSNP: rs113605875
rs113605875
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
C 0.800 CausalMutation CLINVAR
dbSNP: rs121918710
rs121918710
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918711
rs121918711
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918712
rs121918712
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057524497
rs1057524497
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060502040
rs1060502040
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4083047
Disease:
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0003504
Disease:
Aortic Valve Insufficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0026267
Disease:
Mitral Valve Prolapse Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0040433
Disease:
Tooth Crowding
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0158731
Disease:
Congenital pectus carinatum
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0016202
Disease:
Flatfoot
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1836996
Disease:
Disproportionate tall stature
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0575158
Disease:
Kyphoscoliosis deformity of spine
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0027092
Disease:
Myopia
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0024796
Disease:
Marfan Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1298820
Disease:
Aneurysm of aortic root
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0040962
Disease:
Tricuspid Valve Prolapse
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0003706
Disease:
Arachnodactyly
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0240635
Disease:
Byzanthine arch palate
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1844820
Disease:
Range of joint movement increased
T 0.700 CausalMutation CLINVAR
dbSNP: rs111854391
rs111854391
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4025752
Disease:
Abnormal cardiac ventricle morphology
T 0.700 CausalMutation CLINVAR