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rs797045356

From SNPedia

ClinVar
Risk rs797045356(T;T)
Alt rs797045356(T;T)
Reference rs797045356(AGG;AGG)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268608_77268610delAGGinsT
CLNSRC
CLNACC RCV000192361.1,