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rs1057516824

From SNPedia

ClinVar
Risk rs1057516824(-;-)
Alt rs1057516824(-;-)
Reference Rs1057516824(TGCTGGCCTCT;TGCTGGCCTCT)
Significance Probable-Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137193362_137193372delGGCCTCTTGCT
CLNSRC
CLNACC RCV000410971.1,