Variant: rs1553630457 

    present in Gene: TGFBR2
    present in Chromosome: 3
    Position on Chromosome: 30674231
    Alleles of this Variant: T/C

rs1553630457 in TGFBR2 gene and Aneurysm of aortic root PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Aortic aneurysm, familial thoracic 3 PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Bilateral talipes equinovarus PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Blue sclera PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Hand clenching PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Hernia, Inguinal PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Orbital separation excessive PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Uranostaphyloschisis PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.