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rs111033762

From SNPedia

ClinVar
Risk rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG)
Alt rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG)
Reference Rs111033762(GCATGTGCGGCGG;GCATGTGCGGCGG)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648850_34648861delATGTGCGGCGGC
CLNSRC ClinVar
CLNACC RCV000022203.1,