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rs1060505043

From SNPedia

ClinVar
Risk rs1060505043(CT;CT)
Alt rs1060505043(CT;CT)
Reference Rs1060505043(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 17 with or without polydactyly
Variation info
Gene TM4SF19-TCTEX1D2 TCTEX1D2 TM4SF19-AS1
CLNDBN Short-rib thoracic dysplasia 17 with or without polydactyly
Reversed 1
HGVS NC_000003.11:g.196044924delCinsAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000477719.1,