Talk:Gs315
Most users have unphased data; if the evidence for a protective effect is (only) for the haplotype, you should consider only having this genoset apply to homozygotes who by definition will be carrying two such haplotypes.
Thank you for mentioning this. Perhaps the best workaround would be to partition the Gs315 into two genosets: one with homozygous A at rs1880669 (A: dbsnp calls it A) along with at least 1 T at rs1049296 or at least 1 A at rs1880669 and 2 Ts at rs1049296. This person would certainly qualify for the genoset.
For the hetero hetero combo one workaround would be to qualify the claim by noting that the variants would need to be on the same strand. It could be suggested to go to GEDmatch and find matches on this segment to determine phase.
The phase should be fairly straight forward to unwind since the MAF for rs1880669 is 50%. There is a 50% probability that a relative on this segment would be AA or GG at rs1880669. Any such relative that could be found would then allow for the haplotype to be resolved as AT or GT if they also carried a T allele at rs1049296, or AC or GC if they did not carry a T allele.
Homozygosity at rs1049296 would disqualify most in the genoset, even though half of double heterozygotes would have a risk haplotype.
