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rs863225055

From SNPedia

ClinVar
Risk rs863225055(;)
Alt rs863225055(;)
Reference rs863225055(ATCCCTTTTGA;ATCCCTTTTGA)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98239042_98239052delTCAAAAGGGAT
CLNSRC
CLNACC RCV000201254.1,