TABLE 1.
Gene (OMIM) | GRCh37 (chr:pos) | Variant rsID | GnomAD2.2 frequency | OR | Exonic function |
---|---|---|---|---|---|
CEP350 (617870) | (1:179959750) | rs140306241 | 0.0035 | 2.22 | nonsynonymous SNV |
BARD1 (601593) | (2:215593618) | rs149262370 | 0.0001 | 2.03 | nonsynonymous SNV |
FRAS1 (607830) | (4:79432453) | rs186811333 | 0.00096 | 2.84 | nonsynonymous SNV |
TNXB (600985) | (6:320225841) | rs757463918 | 0.00001 | 4.14 | nonsynonymous SNV |
FANCM a (60964) |
(14:45667921) |
rs144567652 | 0.001 | 2.05 | stopgain |
YLPM1 (NA) | (14:75266265) | rs369089869 | 0.000124 | 2.02 | nonsynonymous SNV |
refseq NG_007417.1.