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rs797044644

From SNPedia

ClinVar
Risk rs797044644(GGCAAGTGCTGTT;GGCAAGTGCTGTT)
Alt rs797044644(GGCAAGTGCTGTT;GGCAAGTGCTGTT)
Reference rs797044644(;)
Significance Pathogenic
Disease Sandhoff disease
Variation info
Gene HEXB
CLNDBN Sandhoff disease
Reversed 0
HGVS NC_000005.9:g.74016476_74016488dupCAAGTGCTGTTGG
CLNSRC
CLNACC RCV000174487.1,