Monday, March 26, 2018

Chromosome 8: Rare and Uncommon Variants

A few uncommon variants were tested for by 23andme on Chromosome 8 that I found:

rs4994: ADRB1, MAF, G = 0.115, missense, susceptibility to having obesity, heart trouble, gout, and possibly other conditions according to SNPedia.

rs17368310: : PKHD1L1, MAF, C = 0.0545, splice donor variant.  The gene is associated with polycystic kidney and hepatic disease 1 (autosomal recessive).  Not sure if this variant would contribute to the condition.

rs10088218: LINC00824, MAF, A = 0.0867, intron variant.  Half the risk for ovarian cancer if AA according to SNPedia.

rs2705293: LOC401478, MAF, C = 0.1274, intron variant.  May contribute to neuroticism.

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