Hereditary fructosuria
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
http://en.wikipedia.org/wiki/Essential_fructosuria
There are many known mutations in the ALDOB gene that cause hereditary fructosuria.
23andMe reports on the four most common mutations accounting for about 75% of the HFI-causing mutations in those of European ancestry:
- rs1800546, aka A149P, accounting for 65% of all HFI-causing mutations; 1% of all Brits carry a copy
- rs76917243 or i5008215, aka A174D; accounts for 11-14% of the HFI-causing mutations
- rs78340951 or i5012664, aka N334K; 5-8% of people with HFI
- i5012665, aka delta4E4; about 3% of the HFI-causing mutations