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rs775324176

From SNPedia

ClinVar
Risk rs775324176(;)
Alt rs775324176(;)
Reference rs775324176(TTAC;TTAC)
Significance Pathogenic
Disease Multiple sulfatase deficiency
Variation info
Gene SUMF1
CLNDBN Multiple sulfatase deficiency
Reversed 0
HGVS NC_000003.11:g.4490942_4490945delTTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002782.4,