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rs281874720

From SNPedia

ClinVar
Risk rs281874720(T;T)
Alt rs281874720(T;T)
Reference rs281874720(CCCCCAGGCCCTCCTGG;CCCCCAGGCCCTCCTGG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911650_107911666del17insT
CLNSRC ClinVar
CLNACC RCV000021552.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.