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rs797045364

From SNPedia

ClinVar
Risk rs797045364(;)
Alt rs797045364(;)
Reference rs797045364(GTAA;GTAA)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77276579_77276582delAAGT
CLNSRC
CLNACC RCV000193969.1,