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rs312262707

From SNPedia

ClinVar
Risk rs312262707(;)
Alt rs312262707(;)
Reference rs312262707(TAGAGTGTGGGCCTCAGG;TAGAGTGTGGGCCTCAGG)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194521_45194538del18
CLNSRC
CLNACC RCV000202562.1,