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rs759947457

From SNPedia

ClinVar
Risk rs759947457(;)
Alt rs759947457(;)
Reference rs759947457(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC)
Significance Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 0
HGVS NC_000016.9:g.74808478_74808495del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000023856.4,