Table 4.

Description of Single-Nucleotide Polymorphisms (SNPs) Analyzed

rs No.	Gene	Region	Nucleotide Change	Amino Acid Change (If Applicable)	Physical Location (Base Pairs)	MAF (Unaffected)	Frequency in Affected
1045216	PLEKHA1	Exon 12	G>A	Thr320Ala	124179187	A = 0.291	A = 0.254
10490923	LOC387715/ARMS2	Exon 1	G>A	Arg3His	124204241	A = 0.108	A = 0.060
2736911	LOC387715/ARMS2	Exon 1	T>C	Arg38End	124204345	C = 0.097	C = 0.086
10490924	LOC387715/ARMS2	Exon 1	G>T	Ala69Ser	124204438	T = 0.328	T = 0.526
10664316	LOC387715/ARMS2	Intron 1	del AT		124206375^124206376	− = 0.414	−= 0.269
7088128	LOC387715/ARMS2	Intron 1	A>G		124206400	G = 0.119	G = 0.067
11200638*	HTRA1	Promoter	G>A		124210534	A = 0.317	A = 0.522
	HTRA1	Promoter	G>A		124210557	A = 0.022	A = 0.015
	HTRA1	Promoter	C>T		124210657	T = 0.060	T = 0.049
2672598	HTRA1	Promoter	C>T		124210672	T = 0.496	T = 0.321
1049331	HTRA1	Exon 1	C>T	Ala34Ala	124211260	T = 0.317	T = 0.526
2293870	HTRA1	Exon 1	G>C†	Gly36Gly	124211266	C = 0.090	C = 0.086
			G>T	Gly36Gly	124211266	T = 0.317	T = 0.522
12267142*	HTRA1	Intron 1	C>G		124238232	G = 0.022	G = 0.022
2239586	HTRA1	Intron 3	C>T		124239225	T = 0.108	T = 0.078
2239587	HTRA1	Intron 3	G>A		124239299	A = 0.116	A = 0.086
2672582	HTRA1	Intron 4	C>T		124256490	T = 0.429	T = 0.507
	HTRA1	Intron 5	del GTTT		124256973^124256976	−= 0.392	−= 0.351
2672583	HTRA1	Intron 5	G>A		124257077	A = 0.422	A = 0.515
3013206*	HTRA1	Intron 5	A>T		124257163	T = 0.045	T = 0.022
2672585	HTRA1	Intron 6	C>G		124258391	G = 0.425	G = 0.507
11538140*	HTRA1	Exon 8	C>T	Asp407Asp	124261518	T = 0.004	T = 0.004
2272599	HTRA1	Intron 8	A>G		124261585	G = 0.474	G= 0.545
2293871	HTRA1	Intron 8	C>T		124263661	T = 0.138	T = 0.101

MAF = minor allele frequency.

The physical location of each SNP was determined using Ensembl (http://www.ensembl.org/Homo_sapiens/index.html).

^*Variants/SNPs excluded from statistical analysis because MAF did not meet the criteria of ≥5% in both affected and unaffected siblings combined.

^†The most minor of the 3 alleles