Friday, March 2, 2018

Chromosome 7: Rare and Uncommon Variants

I am in the process of scouring Chromosome 6 for susceptibility for rheumatoid arthritis, but in the meantime here is what I found in Chromosome 7.

rs17420802: MAF, C = 0.0004, PMS2.  Benign missense.
rs2032583: MAF, G = 0.1454, ABCB1.
rs10488631: MAF, C = 0.0591, TNPO3. Downstream variant 500B. Clinical Channel; 2x increased risk of developing Systemic Lupus Erythematosus (SLE); 1.6x increased risk of developing primary biliary cirrhosis; and 1.7x increased risk of developing Sjögren's syndrome.  So there is some susceptibility for developing an autoimmune condition from this one allele.
rs12531711: MAF, G = 0.054, TNPO3. Intron variant.
rs67047829: MAF, A = 0.1152, ERV3-1, ZNF117 .  Stop gained, upstream variant.
rs78655421: MAF, A = 0.0015, CFTR. Missense.  Pathogenic untested allele, for cystic fibrosis.  There are host of other CFTR mutations tested for by 23andme, which could be picked up running raw data using Promethease.  If I remember correctly, this particular variant does not have 100% penetrance.  Meaning that if one is homozygous for the minor allele, it does not always result in being affected with cystic fibrosis.

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