Disease: Marfan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504421
rs727504421
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0024796
Disease:
Marfan Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876658120
rs876658120
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0024796
Disease:
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs11466512
rs11466512
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0024796
Disease:
Marfan Syndrome 		0.010 GeneticVariation BEFREE Carriers of the A allele of rs11466512, delA allele of c.383delA or delT allele of c.1256-15del1T polymorphisms had a trend toward or significantly reduced z-scores (median [interquartile range (IQR)], 2.2 [1.13-4.77]; 2.1 [1.72-3.48]; 2.5 [1.85-3.86]) with respect to homozygous patients with wild-type MFS (median [IQR], 4.20 [2.39-7.25]; 3.9 [2.19-7.00]; 3.9 [2.14-6.93]). 28847661 2018
dbSNP: rs2276767
rs2276767
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0024796
Disease:
Marfan Syndrome 		0.010 GeneticVariation BEFREE Carriers of the A allele of the rs2276767 polymorphism showed a trend toward increased z-score (median [IQR], 4.9 [2.14-7.16]) with respect to patients with wild-type MFS (median [IQR], 3.3 [1.75-5.45]). 28847661 2018