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rs797044471

From SNPedia

ClinVar
Risk rs797044471(C;C)
Alt rs797044471(C;C)
Reference rs797044471(;)
Significance Pathogenic
Disease Cutis laxa with severe pulmonary
Variation info
Gene LTBP4
CLNDBN Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Reversed 0
HGVS NC_000019.9:g.41132919dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033130.3,