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rs864309671

From SNPedia

ClinVar
Risk rs864309671(;)
Alt rs864309671(;)
Reference rs864309671(AGGCCGTCACCAGG;AGGCCGTCACCAGG)
Significance Pathogenic
Disease Epidermolysis bullosa simplex with pyloric atresia
Variation info
Gene PLEC
CLNDBN Epidermolysis bullosa simplex with pyloric atresia
Reversed 1
HGVS NC_000008.10:g.145004312_145004325delCTGGTGACGGCCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008752.6,