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rs797044479

From SNPedia

ClinVar
Risk rs797044479(TAAACTTTACCT;TAAACTTTACCT)
Alt rs797044479(TAAACTTTACCT;TAAACTTTACCT)
Reference rs797044479(AG;AG)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene SERPINB7
CLNDBN Palmoplantar keratoderma, nagashima type
Reversed 0
HGVS NC_000018.9:g.61459676_61459677delAGinsTAAACTTTACCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000088683.4,