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rs751527253

From SNPedia

ClinVar
Risk
Alt
Reference Rs751527253(CT;CT)
Significance Pathogenic
Disease Meckel syndrome type 7 Renal-hepatic-pancreatic dysplasia Nephronophthisis Polycystic kidney dysplasia
Variation info
Gene NPHP3 NPHP3-ACAD11
CLNDBN Meckel syndrome type 7 Renal-hepatic-pancreatic dysplasia Nephronophthisis Polycystic kidney dysplasia
Reversed 0
HGVS NC_000003.11:g.132408108_132408109delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002753.5, RCV000055628.4, RCV000205615.1, RCV000256425.1,