Table 3.

Relative Frequencies of APOE Sequence Variants Within Major Genotype Classes (OLA-Typed Samples)

Positiona	Variant type	Population	Relative SNP frequency by ɛ2/ɛ3/ɛ4 genotypeb			Probc
ɛ3/ɛ3	ɛ3/ɛ2	ɛ4/ɛ3
73	C/T	J	0.089	0.030	0.036	***
		Nd	—	—	—	—
		Rd	—	—	—	—
308	C/T	J	0.018	0.022	0.011	NS
		Nd	—	—	—	—
		Rd	—	—	—	—
471	A/G	J	0.006	0.004	0.185	***
		Nd	—	—	—	—
		Rd	—	—	—	—
545	C/T	J	0.004	—	0.002	NS
		Nd	—	—	—	—
		Rd	—	—	—	—
560	A/T	J	0.258	0.193	0.378	***
		N	0.109	0.333	0.085	***
		R	0.163	0.312	0.075	***
624	T/C	J	0.025	0.077	0.019	***
		N	0.028	0.188	0.013	***
		R	0.076	0.270	0.058	***
832	G/T	J	0.175	0.142	0.353	***
		N	0.337	0.120	0.641	***
		R	0.483	0.298	0.605	***
1163	G/C	J	0.180	0.136	0.082	***
		N	0.333	0.120	0.185	***
		R	0.455	0.246	0.217	***
1522	G/A	Jd	—	—	—	—
		N	0.013	—	0.006	NS
		Rd	—	—	—	—
1575	C/T	Jd	—	—	—	—
		N	0.011	—	0.003	NS
		R	0.043	0.016	0.013	*
1998	G/A	J	—	—	0.068	***
		N	0.005	—	0.469	***
		R	0.002	0.004	0.391	***
2440	G/A	J	0.532	0.225	0.271	***
		N	0.654	0.375	0.317	***
		R	0.527	0.256	0.281	***
2907	T/G	Jd	—	—	—	—
		N	0.011	—	0.003	NS
		R	0.013	—	0.007	NS
3106	T/C	J	—	—	—	—
		N	—	—	0.016	NS
		R	0.001	—	0.018	**
3673	C/G	J	0.017	0.022	0.011	NS
		Nd	—	—	—	—
		Rd	—	—	—	—
4036	C/T	J	0.039	0.004	0.009	***
		Nd	—	—	—	—
		Rd	—	—	—	—
4951	A/C	J	—	—	0.084	***
		N	—	—	0.016	***
		R	—	—	0.102	***
5361	T/C	J	0.020	0.004	0.015	NS
		N	0.243	0.083	0.137	***
		R	0.112	0.039	0.035	***

“—” means site did not vary. SNP = single nucleotide polymorphisms; J = Jackson; N = North Karelia; R = Rochester. 

^aPosition of the variant position in the reference sequence, GenBank AF261279. 

^bFrequency of the least common allele (nucleotide listed second under Variant Type). 

^cProbabilities were assessed by a Fisher exact test for the resulting 2 × 3 table: *P < 0.05; ** = P < 0.01; *** = P < 0.001; NS = nonsignificant. 

^dThese sites were typed in approximately 188 individuals from the population sample without detecting the alternative allele.