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rs1060500742

From SNPedia

ClinVar
Risk rs1060500742(-;-)
Alt rs1060500742(-;-)
Reference Rs1060500742(TCAGGGCC;TCAGGGCC)
Significance Pathogenic
Disease Juvenile polyposis syndrome not provided
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome not provided
Reversed 0
HGVS NC_000018.9:g.48584555_48584562delGGCCTCAG
CLNSRC
CLNACC RCV000470842.1, RCV000481914.1,