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rs780755978

From SNPedia

ClinVar
Risk rs780755978(;)
Alt rs780755978(;)
Reference rs780755978(CTT;CTT)
Significance Probable-Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 0
HGVS NC_000010.10:g.79784850_79784852delCTT
CLNSRC
CLNACC RCV000198773.1,