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rs797045352

From SNPedia

ClinVar
Risk rs797045352(TGAT;TGAT)
Alt rs797045352(TGAT;TGAT)
Reference rs797045352(;)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268451_77268454dupATTG
CLNSRC
CLNACC RCV000195170.1,