Loeys-dietz Syndrome
Other
83 variants
10 genes
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Associated Genes (10)
TGFBR2
COL5A1
TGFBR1
SMAD3
TGFB2
ABCA3
SMAD2
COL3A1
MYH11
TGFB3
Associated Variants (83)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS193922665
TGFBR2
—
—
exploratory
RS375076580
COL5A1
—
—
strong
RS2490105161
TGFBR1
—
—
strong
RS1554701911
TGFBR1
—
—
strong
RS369881419
TGFBR1
—
—
strong
RS760555508
TGFBR1
—
—
strong
RS766157497
TGFBR1
—
—
strong
RS758280185
TGFBR1
—
—
strong
RS371415976
TGFBR1
—
—
strong
RS1575158954
TGFBR2
—
—
strong
RS1588598651
TGFBR1
—
—
strong
RS1595960447
SMAD3
—
—
strong
RS770098673
SMAD3
—
—
strong
RS150116445
TGFBR2
—
—
strong
RS201050937
TGFBR1
—
—
strong
RS140245968
TGFBR1
—
—
strong
RS2140295070
SMAD3
—
—
strong
RS2102527516
TGFB2
—
—
strong
RS755431191
TGFBR1
—
—
strong
RS1324785971
TGFBR1
—
—
strong
RS200171469
ABCA3
—
—
strong
RS199770942
TGFBR1
—
—
strong
RS2118826261
TGFBR1
—
—
strong
RS2505284032
SMAD3
—
—
strong
RS776149698
SMAD2
—
—
strong
RS193922664
TGFBR2
—
—
strong
RS869025531
TGFB2
—
—
strong
RS587782977
SMAD3
—
—
strong
RS587782979
TGFBR2
—
—
strong
RS111840783
COL3A1
—
—
strong
RS112215250
TGFBR2
—
—
strong
RS141259922
TGFBR1
—
—
strong
RS150759461
MYH11
—
—
strong
RS727503476
TGFBR2
—
—
strong
RS755827803
TGFBR1
—
—
strong
RS863223818
TGFBR1
—
—
strong
RS863223761
SMAD3
—
—
strong
RS869025533
TGFB2
—
—
strong
RS1555360229
TGFB3
—
—
strong
RS869025537
TGFBR2
—
—
strong
RS869312903
TGFB2
—
—
strong
RS202094530
SMAD3
—
—
strong
RS886038919
TGFBR1
—
—
strong
RS761991787
TGFBR2
—
—
strong
RS1057521150
TGFB2
—
—
strong
RS200679996
TGFBR1
—
—
strong
RS1060502040
TGFBR1
—
—
strong
RS1060502826
TGFB3
—
—
strong
RS767589799
TGFBR1
—
—
strong
RS79375991
TGFBR2
—
—
strong
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