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. 2020 Oct 29;8(12):e1532. doi: 10.1002/mgg3.1532

TABLE 1.

Rare candidate variants observed shared in affected cousins from high‐risk pedigrees, and with OR>2.0 in Utah case/control association.

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
a

refseq NG_007417.1.