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rs797045333

From SNPedia

ClinVar
Risk rs797045333(;)
Alt rs797045333(;)
Reference rs797045333(AT;AT)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77258693_77258694delTA
CLNSRC
CLNACC RCV000192761.1,