Search for rare protein altering variants influencing susceptibility to multiple myeloma.

Variants were thus discarded if: (i) UCSC alignability ≠ 1 (100bp window size); (ii) variant within 10 bps of a simple repeat region; (iii) highly significant deviation from Hardy-Weinberg equilibrium (HWE) in cases or controls ( P <10 −5 ); (iv) no call rate significantly different between case-samples and control-samples ( P <10 −5 ); (v) no call rate across either case or control samples >0.03.

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Relaxing criteria to include common variants the strongest association was provided by the SNP rs7188880 (hg19 chr16:g.74664810.A>T, risk allele A, MAF =0.46, OR =1.41, P =2.15×10 −6 ), a synonymous SNP mapping to the gene encoding RFWD3 , which was of borderline significance. rs7188880 is in strong linkage disequilibrium with the missense variant rs7193541 ( r 2 =0.65, D’ =0.96) previously shown by GWAS to influence MM risk [ 6 ].

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