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rs797045397

From SNPedia

ClinVar
Risk rs797045397(;)
Alt rs797045397(;)
Reference rs797045397(AG;AG)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77244038_77244039delGA
CLNSRC
CLNACC RCV000195012.1,