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rs28934899(G;G)

From SNPedia

Phenyketonuria
Is agenotype
ofrs28934899
GenePAH
Chromosome12
Position102,840,477
Merged intoRs79931499
mentionedby
Magnitude6
ReputeBad
Geno Mag Summary
(C;C) 0 normal
(C;G) 3 carrier of Phenylketonuria allele
(G;G) 6 Phenyketonuria

Two copies causes Phenylketonuria. But there is zero chance that you're learning about your own Phenylketonuria from a Promethease report. Unless Phenylketonuria is detected at birth and a strict phenylalanine-restricted diet is followed, severe medical problems would have occurred.

It is more likely that you've been affected by this being an ambiguous flip but something about your data is behaving differently than from most other users. info@promethease.com would like to hear from you so that we can understand and resolve this source of confusion.

March of 2015 this position was flipped in SNPedia, to be consistent with GRCh37 (at the expense of being consistent with dbSNP)