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rs770241913

From SNPedia

ClinVar
Risk rs770241913(;)
Alt rs770241913(;)
Reference rs770241913(C;C)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 0
HGVS NC_000003.11:g.4459758delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002790.4,