A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Table 3 Summary statistics for candidate FANCI variants in the AUS population as compared to cancer-free samples from gnomAD

			Non-Finnish Europeans			All populations
Coding DNA reference sequence¹	Amino acid change	dbSNP designation	OR	95% CI	P	OR	95% CI	P
c.13A>G	p.I5V	rs200186938	NA	NA	NA	26.05	3.3– 204	1.9 × 10⁻³
c.286G>A	p.E96K	rs149243307	3.7	0.5– 27.1	0.2	0.57	0.08–4.1	0.58
c.824 T>C	p.I275T	rs142906652	1.77	0.3– 12.7	0.57	0.92	0.1–6.6	0.93
c.1264G>A	p.G422R	rs146040966	8.51	2– 35.9	3.5 × 10⁻³	17.39	4.2– 73	1 × 10⁻⁴
c.1412C>G	p.P471R	rs139072231	8.19	1.1– 62.4	0.04	17.36	2.3– 132	5.8 × 10⁻³
c.1573A>G	p.M525V	rs144908351	0.75	0.2–2.3	0.62	1.31	0.4–4.1	0.64
c.1813C>T	p.L605F	rs117125761	0.98	0.5–1.8	0.94	1.47	0.8–2.8	0.23
c.2366C>T	p.A789V	rs925359228	NA	NA	NA	NA	NA	NA
c.3635 T>C	p.F1212S	rs775483853	57.4	5.2– 634	1 × 10⁻³	130.26	11.8– 1439	1 × 10⁻⁴
c.3812C>T	p.S1271F	rs202066338	19.9	2.3– 171	6.3 × 10⁻³	12.77	1.7– 95.9	0.013

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