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Magnitude change of MTHFR snps and genosets on Jan 5, 2017[edit]

I think that the magnitude of rs1801133(C;T) is too high, compared to other snps in snpedia, since its health consequences are unclear yet in the absence of homozygosity or compound heterozygosity. Those cases are already documented in gs192, gs193, and the homozygous alleles. For this reason, I chose to reduce the magnitude of rs1801133(C;T) a bit.

I also noticed some inconsistencies in the magnitude of MTHFR snps and genosets: compounding effects should result in a higher magnitude, so I enforced the two following inequalities:

  • Mag(gs192) > max(Mag(rs1801133(T;T)), Mag(rs1801131(C;C)))
  • Mag(gs193) > Mag(gs192)

I chose not to modify the magnitude of gs192 since it seems to have been changed several times and many Promethease users have reported this genotype with no apparent consequences, and used this magnitude as a reference point.

Finally, here are the changes I made:

snp/gs Previous magnitude New magnitude
rs1801133(C;T) 2.5 2.2
rs1801133(T;T) 3 2.8
rs1801131(A;C) 2.1 2.1
rs1801131(C;C) 2.5 2.5
gs192 2.9 2.9
gs193 2 3.1

--Nicolas (talk) 12:07, 5 January 2017 (UTC)