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rs57674130

From SNPedia

ClinVar
Risk rs57674130(;)
Alt rs57674130(;)
Reference rs57674130(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC)
Significance Pathogenic
Disease Pachyonychia congenita type 2 not provided
Variation info
Gene KRT17
CLNDBN Pachyonychia congenita type 2 not provided
Reversed 1
HGVS NC_000017.10:g.39780467_39780481delGGTAGGAGGCCAGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015697.26, RCV000056514.1,