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. Author manuscript; available in PMC: 2018 Dec 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Nov 20;175(4):507–515. doi: 10.1002/ajmg.c.31585

Table I.

Rare heterozygous variant burden for CHD7 missense mutations in IHH vs. ExAC database

Minor
Allele
Frequency
of CHD7 missense
variant		 Cases
(n=703)		 Controls
(n=33,370)		 Odds Ratio
(95% CI)		 P-value
(Fischer’s Exact)
< 1% 40/703 (5.7%) 2108/33370 (6.3%) 0.9 (0.6–1.2) 0.58
< 0.5% 32/703 (4.5%) 1316/33370 (3.9%) 1.2 (0.8 –2.7) 0.38
< 0.1% 32/703 (4.5%) 1005/33370 (3%) 1.5 (1.1 –2.2) 0.03

Cases represent 703 IHH patients (Non-Finnish European ancestry) from the MGH Reproductive Endocrine Unit. Controls represent 33,370 subjects of Non-Finnish European ancestry in the ExAC database (Karczewski et al. 2017).