Table 3.

Coding SORL1 variations detected in 211 cases of N. European ancestry

SNP	BP (HG19)	A1**	A2	# cases	MAF	1000g-CEU Frequency	ESP Frequency	Function+	AA Change	Polyphen++	Conservation^
11-121348942	del 121348942-121348944	del	ACA	2	0.005	NA	NA	deletion	173_174del	NA	C
rs117260922*	121367627	A	G	14	0.033	0.0059	0.007459	NS	E270K	D	C
rs150609294	121384931	C	A	1	0.002	0	0.001	NS	N371T	D	C
rs2298813*	121393684	A	G	18	0.045	0.0471	0.060366	NS	A528T	P	C
rs146903951*	121440937	C	T	3	0.007	0.0059	0.007921	NS	F1099L	B	C
rs62617129*	121444958	G	A	3	0.007	0.0059	0.006075	NS	I1116V	B	N
11-121458817	121458817	T	G	1	0.002	NA	NA	NS	Q1301H	B	C
11-121460792	121460792	G	T	1	0.002	NA	NA	NS	F1374L	D	C
rs199717181	121474988	A	G	1	0.002	0	0.000231	NS	G1536S	D	C
rs138580875	121475859	C	G	1	0.002	NA	0.000615	NS	W1563C	D	C
rs62622819*	121485599	A	T	5	0.012	0.0235	0.005999	NS	H1813Q	P	N
rs1792120*	121491782	G	A	1	0.002	0	0.01669	NS	V1967I	B	N
rs140327834	121495816	T	A	2	0.005	0	0.00423	NS	D2065V	D	C
rs74811057*	121495870	G	A	1	0.002	0	0.013229	NS	K2083R	B	C

^*Found in Caribbean Hispanics

^**Minor allele

⁺SNV Function: NS= Non-synonymous SNV

⁺⁺Polyphen Prediction: D=Damaging, P=Possibly Damaging, B=Benign

^{^}Phylop Conservation Prediction: C=Conserved, N=Not Conserved