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rs104886355

From SNPedia

ClinVar
Risk
Alt
Reference Rs104886355(CCAGGGATCCCCGGAGCA;CCAGGGATCCCCGGAGCA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863574_107863591del18
CLNSRC ClinVar
CLNACC RCV000021419.1,


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.