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rs797045032

From SNPedia

ClinVar
Risk rs797045032(TC;TC)
Alt rs797045032(TC;TC)
Reference rs797045032(GG;GG)
Significance Probable-Pathogenic
Disease Congenital myotonia
Variation info
Gene CLCN1
CLNDBN Congenital myotonia, autosomal recessive form
Reversed 0
HGVS NC_000007.13:g.143018813_143018814delGGinsTC
CLNSRC Baylor College of Medicine
CLNACC RCV000191069.1,