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rs797045358

From SNPedia

ClinVar
Risk rs797045358(AGTGAAG;AGTGAAG)
Alt rs797045358(AGTGAAG;AGTGAAG)
Reference rs797045358(;)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77271250_77271256dupGTGAAGA
CLNSRC
CLNACC RCV000192331.1,