LDLR Locus - Polymorphism Incidence

Weighted averages for each variant are computed separately for normal and FH samples.

Click on the polymorphism title for further details.

Click on the sample for more information on that sample.

5’ of the LDLR (D19S394)

241:	241 repeats
247:	247 repeats
257:	257 repeats

Sample Details	Hz	PIC	Variants
			241	247	257
Sum (normal)
Sum (FH)

5' FR (BsmI)

1:	Southern Blot: 13 kb
2:	Southern Blot: 18 kb

Sample Details	Hz	PIC	Variants
			1	2
123 USA (FH)	0.283	0.243	0.829	0.171
Sum (normal)
Sum (FH)			0.829	0.171

5' FR (RsaI)

1:	Southern Blot: 1.8 kb
2:	Southern Blot: 3.2 kb

Sample Details	Hz	PIC	Variants
			1	2
130 Caucasian			0.25	0.75
Sum (normal)			0.250	0.750
Sum (FH)

5' FR (SacI/KpnI)

1:	Southern Blot: 2.0 kb
2:	Southern Blot: 2.05 kb

Sample Details	Hz	PIC	Variants
			1	2
10 Caucasian			0.5	0.5
Sum (normal)			0.500	0.500
Sum (FH)

5' FR (BcII)

1:	Southern Blot: 5.5 kb
2:	Southern Blot: 8.7 kb

Sample Details	Hz	PIC	Variants
			1	2
18 Caucasian			0.78	0.22
Sum (normal)			0.780	0.220
Sum (FH)

Exon 2 (SfnaI)

1:	Base: C
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
UK			0.835	0.165
60 London			0.86	0.14
Sum (normal)			0.860	0.140
Sum (FH)

Intron 3 (ApaLI)

1:	Southern Blot: 4.2 kb
2:	Southern Blot: 4.5 kb

Sample Details	Hz	PIC	Variants
			1	2
72 unknown			0.05	0.95
148 Icelandic	0.492	0.37	0.563	0.437
111 SouthAfrican	0.485	0.368	0.414	0.586
40 Caucasian			0.96	0.04
256 Italian	0.489	0.38	0.426	0.574
121 Japanese	0.49	0.37	0.43	0.57
164 German		0.352	0.472	0.518
123 USA	0.5	0.375	0.512	0.488
204 Swiss	0.493	0.372	0.559	0.441
89 German	0.447	0.347	0.337	0.663
13 Icelandic (FH)	0.355		0.769	0.231
99 SouthAfrican (FH)	0.039		0.02	0.98
57 Italian (FH)	0.499		0.474	0.526
52 Swiss (FH)	0.5		0.5	0.5
25 German (FH)	0.499		0.48	0.52
Sum (normal)			0.464	0.534
Sum (FH)			0.313	0.687

Exon 4 (MaeIII)

1:	Base: G
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
38 Caucasian			1.0	0.0
86 Caucasian (FH)			0.994	0.006
Sum (normal)			1.000	0.000
Sum (FH)			0.994	0.006

Intron 4 (TaqI)

1:	Southern Blot: 0.6 kb
2:	Southern Blot: 1.7 kb

Sample Details	Hz	PIC	Variants
			1	2
55 Japanese			0.31	0.69
53 Japanese			0.32	0.68
111 SouthAfrican	0.069	0.067	0.36	0.64
121 Japanese	0.5	0.375	0.512	0.488
204 Swiss	0.192	0.174	0.108	0.892
89 German	0.126	0.118	0.067	0.933
122 Spanish	0.151	0.139	0.082	0.918
99 SouthAfrican (FH)	0.069		0.0	1.0
60 London (FH)			0.08	0.92
52 Swiss (FH)	0.286		0.173	0.827
25 German (FH)	0.077		0.04	0.96
92 Spanish (FH)	0.141	0.131	0.076	0.924
Sum (normal)			0.230	0.770
Sum (FH)			0.066	0.934

Intron 6 (SphI)

1:	Southern Blot: 9.7/5.3/3.2 kb
2:	Southern Blot: 9.7/5.3/3.7 kb

Sample Details	Hz	PIC	Variants
			1	2
123 USA	0.485	0.368	0.585	0.415
Sum (normal)			0.585	0.415
Sum (FH)

Exon 7 (Artificial CfoI)

1:	Base: C
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
200 Caucasian			0.995	0.005
Sum (normal)			0.995	0.005
Sum (FH)

Intron 7 (SmaI)

1:	Base: G
2:	Base: C

Sample Details	Hz	PIC	Variants
			1	2
200 Danish			0.565	0.435
124 Danish (FH)			0.597	0.403
Sum (normal)			0.565	0.435
Sum (FH)			0.597	0.403

Exon 8 (StuI)

1:	Base: A
2:	Base: G

Sample Details	Hz	PIC	Variants
			1	2
111 SouthAfrican	0.102	0.097	0.946	0.054
164 German		0.095	0.911	0.089
204 Swiss	0.075	0.073	0.961	0.039
122 Spanish	0.094	0.089	0.951	0.049
123 USA	0.107	0.102	0.943	0.077
120 SouthAfrican			0.942	0.058
60 SouthAfrican			0.93	0.07
12 SouthAfrican			0.88	0.12
54 London		0.101	0.94	0.06
41 German			0.96	0.04
324 German			0.83	0.17
256 NorthAmerican	0.107	0.102	0.943	0.057
89 German	0.182	0.165	0.899	0.101
318 Icelandic	0.0	0.0	0.95	0.05
23 Israeli	0.0	0.0	0.957	0.043
99 SouthAfrican (FH)	0.182		0.899	0.101
52 Swiss (FH)	0.109		0.942	0.058
92 Spanish (FH)	0.043	0.041	0.978	0.022
45 SouthAfrican (FH)			0.9	0.1
61 London (FH)			0.96	0.04
69 German (FH)			0.93	0.07
25 German (FH)	0.0		1.0	0.0
Sum (normal)			0.924	0.078
Sum (FH)			0.939	0.061

Intron 9 (HhaI)

1:	Base: C
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
92 Danish	0.42	0.37	0.56	0.44
Sum (normal)			0.560	0.440
Sum (FH)

Exon 10 (G>A)

1:	Base: G
2:	Base: A

Sample Details	Hz	PIC	Variants
			1	2
12 unknown			0.5	0.5
Sum (normal)			0.500	0.500
Sum (FH)

Exon 11 (artificial StuI)

1:	Base: C
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
38 unknown			0.89	0.11
39 Norwegian			0.955	0.045
30 Chinese (FH)			0.88	0.22
39 Norweigan (FH)			0.96	0.04
Sum (normal)			0.923	0.077
Sum (FH)			0.925	0.118

Exon 12 (HincII)

1:	Base: T
2:	Base: C
3:	Base: -/C
4:	Base: +/C
5:	Base: +/T

Sample Details	Hz	PIC	Variants
			1	2	3	4	5
204 Swiss	0.491	0.37	0.569	0.431
89 German	0.472	0.362	0.618	0.382
23 Israeli	0.0	0.0	0.566	0.434
122 Spanish	0.481	0.365	0.598	0.402
64 Spanish	0.0	0.0			0.423	0.382	0.195
52 Swiss (FH)	0.426		0.52	0.48
60 London (FH)			0.49	0.51
25 German (FH)	0.48		0.6	0.4
92 Spanish (FH)		0.371	0.565	0.435
61 Caucasian (FH)			0.59	0.41
46 Spanish (FH)	0.614	0.537			0.489	0.347	0.164
51 Caucasian (FH)			0.45	0.55
Sum (normal)			0.587	0.413	0.423	0.382	0.195
Sum (FH)			0.535	0.465	0.489	0.347	0.164

Exon 12 (C>T)

1:	Base: C
2:	Base: T

Sample Details	Hz	PIC	Variants
			1	2
unknown (FH)		0.02	0.99	0.01
Sum (normal)
Sum (FH)

Intron 12 (BstEII)

1:	Southern Blot: 22/11/5/4 kb
2:	Southern Blot: 33/5/4 kb

Sample Details	Hz	PIC	Variants
			1	2
20 European			0.25	0.75
43 Italian			0.244	0.756
80 Italian	0.335		0.213	0.787
Sum (normal)			0.227	0.773
Sum (FH)

Exon 13 (AvaII)

1:	Base: T
2:	Base: C

Sample Details	Hz	PIC	Variants
			1	2
111 SouthAfrican	0.47	0.36	0.378	0.622
204 Swiss	0.489	0.37	0.426	0.574
53 Japanese			0.78	0.22
121 Japanese	0.254	0.221	0.149	0.851
123 USA	0.49	0.37	0.431	0.569
89 German	0.461	0.354	0.36	0.74
23 Israeli	0.0	0.0	0.413	0.785
122 Spanish	0.469	0.359	0.375	0.625
9 USA			0.44	0.56
123 USA	0.49	0.37	0.431	0.569
128 Italian	0.474	0.362	0.39	0.61
183 Italian			0.448	0.552
445 Italian	0.494		0.445	0.555
204 USA	0.49		0.44	0.66
370 Hispanic	0.49	0.37	0.56	0.44
200 USA	0.49		0.57	0.43
37 non-Hispanic	0.49	0.395	0.43	0.57
99 SouthAfrican (FH)	0.039		0.02	0.98
57 Italian (FH)	0.493		0.49	0.51
52 Swiss (FH)	0.426		0.308	0.692
60 London (FH)			0.49	0.51
25 German (FH)	0.493		0.44	0.56
92 Spanish (FH)	0.485	0.367	0.413	0.587
88 Italian (FH)			0.426	0.574
Sum (normal)			0.449	0.564
Sum (FH)			0.342	0.658

Exon 14 (C>A)

1:	Base: C
2:	Base: A

Sample Details	Hz	PIC	Variants
			1	2
Sum (normal)
Sum (FH)

Exon 15 (MspI)

1:	Base: G
2:	Base: A

Sample Details	Hz	PIC	Variants
			1	2
38 unknown			0.72	0.18
122 Spanish	0.335	0.279	0.213	0.787
95 unknown			0.76	0.24
92 Spanish (FH)	0.364	0.298	0.239	0.761
Sum (normal)			0.492	0.493
Sum (FH)			0.239	0.761

Intron 15 (SpeI)

1:	Southern Blot: 13;6.6 kb
2:	Southern Blot: 21;9.4 kb

Sample Details	Hz	PIC	Variants
			1	2
123 USA	0.149	0.138	0.081	0.919
50 USA			0.42	0.58
Sum (normal)			0.179	0.821
Sum (FH)

Intron 15 (ApaLI)

1:	Southern Blot: 6.6/3.8/2.8/1.7 kb
2:	Southern Blot: 9.4/3.8/1.7 kb

Sample Details	Hz	PIC	Variants
			1	2
53 Japanese			0.34	0.66
41 German			0.43	0.57
324 German			0.45	0.55
128 Italian			0.39	0.61
445 Italian	0.5		0.497	0.503
66 London		0.37	0.52	0.48
25 unknown			0.52	0.48
45 unknown			0.48	0.52
57 Italian (FH)			0.54	0.46
53 London (FH)		0.37	0.56	0.44
76 German (FH)			0.53	0.47
27 unknown (FH)			0.63	0.37
45 unknown (FH)			0.39	0.61
Sum (normal)			0.463	0.537
Sum (FH)			0.524	0.476

Intron 15 (PvuII)

1:	Southern Blot: 16/4.8/2.6 kb Base: A
2:	Southern Blot: 19/4.8 kb Base: G

Sample Details	Hz	PIC	Variants
			1	2
111 SouthAfrican	0.418	0.33	0.297	0.703
121 Japanese	0.137	0.128	0.074	0.926
204 Swiss	0.419	0.331	0.299	0.701
89 German	0.432	0.338	0.315	0.685
53 Japanese			0.12	0.88
60 SouthAfrican			0.24	0.76
324 German			0.23	0.77
122 Spanish	0.335	0.279	0.213	0.787
128 Italian	0.467	0.358	0.37	0.63
123 USA	0.369	0.301	0.244	0.766
62 Caucasian			0.23	0.77
38 unknown			0.326	0.764
306 Norwegian			0.81	0.19
190 unknown			0.23	0.77
90 Caucasian			0.24	0.76
47 London		0.311	0.25	0.75
52 German			0.26	0.74
48 Icelandic	0.353	0.291	0.229	0.771
13 Icelandic (FH)	0.142		0.077	0.923
99 SouthAfrican (FH)	0.213		0.121	0.879
57 Italian (FH)	0.266		0.19	0.81
52 Swiss (FH)	0.375		0.25	0.75
25 German (FH)	0.365		0.24	0.76
45 SouthAfrican (FH)			0.32	0.68
92 Spanish (FH)	0.364	0.298	0.239	0.761
34 unknown (FH)			0.18	0.82
12 SouthAfrican (FH)			0.09	0.91
59 London (FH)		0.31	0.24	0.76
88 German (FH)			0.28	0.72
164 German (FH)		0.352	0.35	0.65
Sum (normal)			0.325	0.677
Sum (FH)			0.247	0.753

Exon 18 (MspI)

1:	Base: G
2:	Base: A

Sample Details	Hz	PIC	Variants
			1	2
48 Caucasian			0.77	0.23
100 unknown	0.37		0.76	0.24
100 unknown (FH)			0.61	0.39
Sum (normal)			0.763	0.237
Sum (FH)			0.610	0.390

Exon 18 (NcoI)

1:	Southern Blot: 9/7/3.4 kb
2:	Southern Blot: 13/9/7 kb

Sample Details	Hz	PIC	Variants
			1	2
111 SouthAfrican	0.444	0.346	0.667	0.333
121 Japanese	0.496	0.374	0.545	0.455
204 Swiss	0.398	0.319	0.725	0.275
89 German	0.482	0.366	0.596	0.404
53 Japanese			0.55	0.45
123 USA	0.4	0.32	0.724	0.276
60 SouthAfrican			0.67	0.33
324 German			0.61	0.39
122 Spanish	0.496	0.373	0.543	0.457
123 USA	0.4	0.32	0.724	0.876
48 Icelandic	0.429	0.337	0.688	0.212
52 unknown			0.64	0.36
117 London			0.74	0.26
46 Hispanic	0.42	0.333	0.7	0.3
54 German			0.61	0.39
94 non-Hispanic	0.42	0.334	0.71	0.29
13 Icelandic (FH)	0.355		0.769	0.231
99 SouthAfrican (FH)	0.242		0.141	0.859
52 Swiss (FH)	0.375		0.75	0.25
25 German (FH)	0.365		0.76	0.24
60 London (FH)			0.74	0.26
45 SouthAfrican (FH)			0.47	0.53
92 Spanish (FH)	0.367	0.373	0.59	0.41
126 London (FH)			0.63	0.37
83 German (FH)			0.7	0.3
Sum (normal)			0.653	0.387
Sum (FH)			0.570	0.430

Exon 18 (HVR-TA)

106:	106 repeats
108:	108 repeats
112:	112 repeats

Sample Details	Hz	PIC	Variants
			106	108	112
27 USA	0.485	0.0	0.7	0.1	0.2
Sum (normal)			0.700	0.100	0.200
Sum (FH)

3' FR (ApaLI)

1:	Southern Blot: 13 kb
2:	Southern Blot: 17 kb

Sample Details	Hz	PIC	Variants
			1	2
111 SouthAfrican	0.394	0.317	0.73	0.27
121 Japanese	0.498	0.374	0.529	0.471
204 Swiss	0.309	0.262	0.809	0.191
53 Japanese			0.52	0.48
128 Italian			0.34	0.64
123 USA	0.393	0.375	0.732	0.268
50 unknown			0.61	0.39
256 German	0.324	0.271	0.797	0.203
445 Italian	0.339	0.603	0.784	0.216
99 SouthAfrican (FH)	0.228		0.131	0.869
57 Italian (FH)			0.19	0.81
52 Swiss (FH)	0.334		0.788	0.212
57 German (FH)	0.444		0.667	0.393
Sum (normal)			0.707	0.291
Sum (FH)			0.388	0.625

3' FR (AfIIII)

1:
2:

Sample Details	Hz	PIC	Variants
			1	2
22 AfricanAmerican	0.41	0.0	0.3	0.7
Sum (normal)			0.300	0.700
Sum (FH)

3' FR (ApaLI)

1:	Southern Blot: 26 kb
2:	Southern Blot: kb

Sample Details	Hz	PIC	Variants
			1	2
128 Italian			0.21	0.79
57 Italian (FH)			0.27	0.79
Sum (normal)			0.210	0.790
Sum (FH)			0.270	0.790

3' FR (PstI)

1:	Southern Blot: 2.85 kb
2:	Southern Blot: 3.4 kb

Sample Details	Hz	PIC	Variants
			1	2
53 Japanese	0.0	0.0	0.18	0.82
123 USA	0.494	0.372	0.447	0.553
35 random			0.4	0.6
39 unknown			0.37	0.63
Sum (normal)			0.372	0.628
Sum (FH)

3' FR (D19S221)

193:	193 repeats
201:	201 repeats
207:	207 repeats Sample Details Hz PIC Variants 193 201 207 Sum (normal) Sum (FH)