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rs876658120

From SNPedia

ClinVar
Risk rs876658120(;)
Alt rs876658120(;)
Reference rs876658120(TGAGACGTTGAC;TGAGACGTTGAC)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30732933_30732944delACGTTGACTGAG
CLNSRC
CLNACC RCV000217150.1,