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rs1057519338(C;T)

From SNPedia
Carrier of an Alport syndrome mutation; X-linked
Is agenotype
ofrs1057519338
GeneAMMECR1
ChromosomeX
Position110,264,571
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 Common/normal
(C;T) 3 Carrier of an Alport syndrome mutation; X-linked
(T;T) 5.8 Alport syndrome; most likely in males due to X-linkage

Mothers with this genotype are unaffected but have a 50% chance of having an affected son; see discussion at rs1057519338 and at Alport syndrome.