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rs863225053

From SNPedia

ClinVar
Risk rs863225053(;)
Alt rs863225053(;)
Reference rs863225053(CCATGTCAT;CCATGTCAT)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene RTEL1-TNFRSF6B RTEL1
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000020.10:g.62321517_62321525delATGTCATCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000201222.2, RCV000201532.1,