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rs398122883

From SNPedia

ClinVar
Risk rs398122883(;)
Alt rs398122883(;)
Reference rs398122883(CTACGCCAAGGAGGT;CTACGCCAAGGAGGT)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB2 TGFB2-AS1
CLNDBN Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218520337_218520351delCTACGCCAAGGAGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030733.26,