Table 2 SNPs in SORL1, SORCS1 SORCS2 and SORCS3 associated with AD: (a) SNPs in SORL1, (b) SNPs in SORCS1, (c) SNPs in SORCS2, (d) SNPs in SORCS3

From: Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

(a)
SNP	CHR	BP	Allele 1	Allele 2	Freq1	β	s.e.	P^a	NUMOBS	Location ^b	Splice site distance
rs7946599	11	121 423 640	a	g	0.0155	−0.4545	0.1027	9.66E-06	20131	Intron 16	1006
rs2298814	11	121 424 882	a	g	0.0157	−0.4234	0.0916	3.76E-06	23821	Intron 17	64
rs6589885	11	121 426 042	a	g	0.0162	−0.4004	0.0851	2.57E-06	23821	Intron 18	15
rs7131432	11	121 426 870	a	t	0.0165	−0.3804	0.0811	2.75E-06	23821	Intron 18	843
rs720099	11	121 433 793	t	c	0.9829	0.3607	0.0766	2.51E-06	23821	Intron 21	3427
rs11218342	11	121 434 428	t	c	0.9829	0.3575	0.0761	2.60E-06	23821	Intron 21	3221
rs11218343	11	121 435 587	t	c	0.9828	0.3539	0.0755	2.72E-06	23821	Intron 21	2062
rs1784919	11	121 439 665	t	c	0.0172	−0.3586	0.0752	1.88E-06	23821	Intron 22	1201
rs1792124	11	121 441 520	a	g	0.0172	−0.359	0.0752	1.83E-06	23821	Intron 23	541
rs3781835	11	121 448 254	a	g	0.0173	−0.3501	0.0751	3.14E-06	23821	Intron 23	145
rs3781838	11	121 453 517	t	g	0.9825	0.3506	0.0754	3.29E-06	23821	Intron 25	650
rs12272618	11	121 460 324	t	c	0.9821	0.3536	0.0754	2.74E-06	23821	Intron 29	225
rs2276412	11	121 460 846	t	c	0.018	−0.3531	0.0752	2.64E-06	23821	CDS-synon (exon 30)
rs7939826	11	121 468 256	t	c	0.0198	−0.3463	0.0738	2.69E-06	23821	Intron 32	1775
rs1784933	11	121 489 416	a	g	0.9532	0.216	0.0606	0.000363	21455	Intron 41	67

(b)
SNP	CHR	BP	Allele 1	Allele 2	Freq1	β	s.e.	P^c	NUMOBS	Location ^d	Splice site distance
rs12258738	10	108 557 945	t	g	0.9754	−0.1415	0.0665	0.03328	23821	Intron 3	21 495
rs12248379	10	108 562 008	t	g	0.1844	0.0761	0.0257	0.003058	23821	Intron 3	25 558
rs17121613	10	108 563 116	t	g	0.8766	−0.0773	0.0304	0.01106	23821	Intron 3	26 216
rs4917491	10	108 650 174	t	c	0.5952	−0.0405	0.0202	0.04463	23821	Intron 2	60 743
rs7076579	10	108 653 167	t	c	0.5951	−0.04	0.0202	0.04719	23821	Intron 2	63 104
rs7096260	10	108 653 483	a	g	0.5949	−0.0396	0.0201	0.04944	23821	Intron 2	62 788
rs12356136	10	108 657 180	t	c	0.4006	0.0403	0.0203	0.04731	23821	Intron 2	59 091
rs7895881	10	108 658 597	a	t	0.4002	0.0406	0.0204	0.04674	23821	Intron 2	57 674
rs1004921	10	108 659 048	a	g	0.4	0.041	0.0204	0.04501	23821	Intron 2	57 223
rs10884389	10	108 695 777	t	c	0.4129	−0.0388	0.0197	0.04886	23821	Intron 2	20 494
rs10786997	10	108 704 547	a	g	0.5873	0.0401	0.0196	0.04094	23821	Intron 2	11 724
rs11193127	10	108 706 022	a	g	0.4125	−0.0399	0.0196	0.04169	23821	Intron 2	10 249
rs11193128	10	108 706 198	t	c	0.5876	0.0397	0.0196	0.04273	23821	Intron 2	10 073
rs10884390	10	108 709 366	a	g	0.5877	0.0399	0.0196	0.04167	23821	Intron2	6905
rs10884391	10	108 709 892	a	c	0.4124	−0.0406	0.0196	0.03801	23821	Intron 2	6379
rs10786998	10	108 710 127	a	c	0.4124	−0.0408	0.0196	0.03737	23821	Intron 2	6144
rs12245675	10	108 712 233	t	c	0.4116	−0.0413	0.0196	0.03543	23821	Intron 2	4038
rs17276802	10	108 712 398	t	c	0.4117	−0.0414	0.0196	0.03474	23821	Intron 2	3873
rs2149197	10	108 716 784	c	g	0.5884	0.0435	0.0196	0.0268	23821	Intron 1	446
rs11193130	10	108 718 454	t	c	0.5875	0.0435	0.0196	0.02677	23821	Intron 1	2116
rs4918282	10	108 862 741	a	g	0.4074	0.0651	0.0263	0.0134	20952	Intron 1	60 986
rs10787010	10	108 862 960	a	g	0.6392	−0.061	0.0303	0.04421	17630	Intron 1	60 767
rs11193209	10	108 890 136	t	c	0.9776	−0.1544	0.0746	0.03843	23821	Intron 1	33 591

(c)
SNP	CHR	BP	Allele 1	Allele 2	Freq1	β	s.e.	P^c	NUMOBS	Location ^d	Splice site distance
rs11722747	4	7 314 043	a	g	0.1431	0.0554	0.0281	0.04836	23821	Intron 1	83 972
rs4689707	4	7 326 199	t	c	0.1329	0.0663	0.0328	0.0434	19918	Intron 1	71 816
rs3864203	4	7 328 416	a	g	0.6996	−0.0554	0.0265	0.03639	19918	Intron 1	69 599
rs7665496	4	7 328 734	t	c	0.9063	−0.1045	0.0415	0.01184	19918	Intron 1	69 281
rs7661158	4	7 329 065	a	g	0.6996	−0.0497	0.0239	0.03715	19918	Intron 1	68 950
rs6840423	4	7 329 324	t	g	0.121	0.0849	0.0356	0.01723	19918	Intron 1	68 691
rs3864202	4	7 329 426	a	g	0.7018	−0.049	0.0233	0.03506	19918	Intron 1	68 589
rs16840053	4	7 330 676	a	g	0.1462	0.0778	0.0315	0.0136	19918	Intron 1	67 339
rs13110208	4	7 353 052	t	c	0.5296	−0.0626	0.0241	0.009441	17630	Intron 1	44 963
rs4689720	4	7 390 442	t	c	0.1019	−0.1178	0.0531	0.02643	16732	Intron 1	7573
rs7684383	4	7 417 241	t	c	0.0403	−0.1429	0.069	0.03841	19633	Intron 2	19 159
rs4234804	4	7 417 632	a	g	0.0396	−0.1509	0.0674	0.02505	20990	Intron 2	19 550
rs6837589	4	7 419 276	t	c	0.1688	−0.0589	0.0277	0.03358	22439	Intron 2	21 194
rs13105690	4	7 420 184	t	c	0.2742	−0.0599	0.0248	0.01552	19918	Intron 2	22 102
rs4292336	4	7 420 785	a	g	0.8316	0.0546	0.0277	0.04904	22439	Intron 2	22 703
rs17465564	4	7 622 347	a	g	0.9136	0.0861	0.04	0.03151	22439	Intron 3	17 708
rs2214459	4	7 667 486	t	c	0.6948	−0.0519	0.0234	0.02645	21275	Intron 7	1288
rs12233824	4	7 733 843	a	g	0.45	−0.04	0.0203	0.04877	23821	Intron 23	1206

(d)
SNP	CHR	BP	Allele 1	Allele 2	Freq1	β	s.e.	P^e	NUMOBS	Location ^d	Splice site distance
rs12249460	10	106 605 440	a	g	0.0361	0.136	0.0585	0.01999	23821	Intron 2	2823
rs6584629	10	106 608 435	a	g	0.0475	0.1038	0.0457	0.02303	23821	Intron 2	5818
rs12259189	10	106 615 387	t	c	0.0474	0.0972	0.0458	0.03358	23821	Intron 2	12 770
rs3976793	10	106 616 736	a	g	0.0474	0.0969	0.0458	0.03433	23821	Intron 2	14 119
rs12262245	10	106 621 704	c	g	0.9529	−0.0941	0.046	0.04088	23821	Intron 2	19 087
rs7086583	10	106 622 009	a	c	0.9529	−0.0929	0.046	0.04342	23821	Intron 2	19 392
rs1670036	10	106 807 189	a	c	0.978	0.2082	0.0867	0.0164	23821	Intron 5	4 303
rs749304	10	106 990 399	a	g	0.7655	−0.0469	0.0227	0.0391	23821	Intron 20	7392
rs12263804	10	106 993 770	t	c	0.2348	0.0474	0.0227	0.03711	23821	Intron 20	10 763
rs7920533	10	107 013 252	a	g	0.3247	0.0546	0.0221	0.01354	23821	Intron 23	588
rs3750261	10	107 023 390	t	c	0.2396	0.045	0.0226	0.04653	23821	UTR-3
rs10884126	10	107 025 028	a	g	0.2397	0.0451	0.0226	0.04627	23821	NearGene-3

Abbreviations: BP, base pair position; β, beta coefficient; CDS, coding sequence; CHR, chromosome; location, single nucleotide polymorphism (SNP) location; NUMOBS, number of subjects; s.e., standard error of beta coefficient; SORCS1, sortilin-related VPS10 domain-containing receptor 1; SORL1, sortilin-related receptor 1; UTR, untranslated rgion.
^aBased on the number of tests performed, a P-value of 0.0009 can be considered statistically significant.
^bExons 1–16 encode the VPS10 domain.
^cBased on the number of tests performed, a P-value of 0.0002 can be considered statistically significant.
^dExons 1–18 encode the VPS10 domain.
Based on the number of tests performed, a P-value of 0.0006 can be considered statistically significant.

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Table 2 SNPs in SORL1, SORCS1 SORCS2 and SORCS3 associated with AD: (a) SNPs in SORL1, (b) SNPs in SORCS1, (c) SNPs in SORCS2, (d) SNPs in SORCS3

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