Table 2.

Results for SNVsa identified by WES and genotyped in 270 independent HPC families of European ancestry

DiscoveryValidation
GeneGenomic position (hg19)Variant and rs IDProteinMAF in ESPMAF in ClinSeqNo. of WES families with carriers (Aff/Unaff)bNo. (%) of 270 families with affected carriersMAF in 819 genotyped affected mencMAF in 496 genotyped unaffected mencPd
BTNL2Chr6: 32,363,888C > T rs41441651Missense: p.Asp336Asn0.0090.0052 (10/0)9 (3.33)0.007300.0032
BTNL2Chr6: 32,362,521C > A rs28362675Missense: p.Gly454Cys0.0080.0052 (10/0)8 (2.96)0.006100.0070
  • aTop ranked (P < 0.05) SNVs identified by WES of 19 HPC families.

  • bNumber of affected carriers/number of unaffected carriers.

  • cThe number of affected carriers for rs41441651 and rs28362675 is 12 and 10, respectively, in the 270 independent HPC families.

  • dMonte Carlo–based one-sided P value from the PedGenie χ2 test for association based on the 270 independent HPC families.