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rs1057519337(A;G)

From SNPedia
Carrier of an Alport syndrome mutation; X-linked
Is agenotype
ofrs1057519337
GeneAMMECR1
ChromosomeX
Position110,264,543
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5.8 Alport syndrome; most likely in males due to X-linkage
(A;G) 3 Carrier of an Alport syndrome mutation; X-linked
(G;G) 0 common/normal

Mothers with this genotype are unaffected but have a 50% chance of having an affected son; see discussion at rs1057519337 and at Alport syndrome.