Results for SNVsa identified by WES and genotyped in 270 independent HPC families of European ancestry
| Discovery | Validation | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Genomic position (hg19) | Variant and rs ID | Protein | MAF in ESP | MAF in ClinSeq | No. of WES families with carriers (Aff/Unaff)b | No. (%) of 270 families with affected carriers | MAF in 819 genotyped affected menc | MAF in 496 genotyped unaffected menc | Pd |
| BTNL2 | Chr6: 32,363,888 | C > T rs41441651 | Missense: p.Asp336Asn | 0.009 | 0.005 | 2 (10/0) | 9 (3.33) | 0.0073 | 0 | 0.0032 |
| BTNL2 | Chr6: 32,362,521 | C > A rs28362675 | Missense: p.Gly454Cys | 0.008 | 0.005 | 2 (10/0) | 8 (2.96) | 0.0061 | 0 | 0.0070 |
↵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.