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rs746636748

From SNPedia

ClinVar
Risk rs746636748(;)
Alt rs746636748(;)
Reference rs746636748(CT;CT)
Significance Pathogenic
Disease Rothmund-Thomson syndrome
Variation info
Gene LRRC14 RECQL4
CLNDBN Rothmund-Thomson syndrome
Reversed 0
HGVS NC_000008.10:g.145741454_145741455delCT
CLNSRC
CLNACC RCV000178888.1,