Friday, February 23, 2018

Chromosome 6: Rare and Uncommon Variants

In Chromosome 6, I found a few uncommon variants, one of which affects the ability to tolerate allopurinol, which is used to treat gout.

rs3095318: MAF, A = 0.1018, risk allele, CDSN, PSORS1C1.
According to SNPedia, the variant is associated with HLA-B*5801 allele and allopurinol side effects in Japanese population.  

rs28381349: MAF, T = 0.0325, MSH5.  rs28381349 and rs1802127, MAF, C = 0.0289 (rs28399984) alleles always found together in Swedish patients with IG A deficiency and common variable immunodeficiency (CVID) but may not have complete penetrance.

rs3798220: MAF, C = 0.0513, LPA.  Associated with coronary artery disease.

rs7750641: MAF, C = 0.0238, TCF19.  It's a missense mutation so it may be important.

rs7741100: MAF, A = 0.0423.  

rs35445101: MAF, A = 0.0739.  Could be associated with hepatocellular carcinoma.

rs130060: MAF, C = 0.0034, HTR1B. 

rs2235197: MAF, A = 0.1104, UNC93A, stop gained.

rs17136358: MAF, C = 0.0607, EIF2AK1

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