Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045361

From SNPedia

ClinVar
Risk rs797045361(C;C)
Alt rs797045361(C;C)
Reference rs797045361(;)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77275759dupC
CLNSRC
CLNACC RCV000192771.1,