Table 1.
List of the CUBN SNPs in the extended European Haplotype, including the reported albuminuria risk variant p.Ile2984Val[8]and two other missense mutations (p.Leu2153Phe and p.Glu3002Gly)
| Marker ID | Variation Type | Allele Frequency YRI (%)1 | Allele Frequency CEU (%)1 |
LD with the reported Ile2984Val Variant in CEU population1 |
Distance from the reported Ile2984Val Variant (bp) | ||
|---|---|---|---|---|---|---|---|
| r^2 | LOD | D’ | |||||
|
rs1801240 |
Glu3002Gly |
21.1 |
6.7 |
1.00 |
10.36 |
1 |
−55 |
|
rs1801239 |
Ile2984Val |
02 |
6.72 |
-- |
-- |
-- |
0 |
| rs74440730 |
Intronic |
2.5 |
5.8 |
0.87 |
8.17 |
1 |
1,840 |
| rs79051478 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
5,557 |
| rs78936062 |
Intronic |
1.7 |
6.7 |
1.00 |
10.36 |
1 |
8,825 |
| rs74942409 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
9,249 |
| rs17343073 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
13,144 |
| rs78625146 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
14,787 |
| rs79801018 |
Intronic |
9.3 |
6.7 |
1.00 |
10.36 |
1 |
18,607 |
| rs78786782 |
Intronic |
9.3 |
6.7 |
1.00 |
10.36 |
1 |
18,723 |
| rs73592376 |
Intronic |
50.8 |
6.7 |
1.00 |
10.36 |
1 |
18,735 |
| rs77744173 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
19,219 |
| rs45619139 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
21,794 |
| rs74375025 |
Intronic |
0 |
6.7 |
1.00 |
10.36 |
1 |
28,612 |
| rs45487598 |
Intronic |
0 |
8.3 |
0.79 |
8.18 |
1 |
39,601 |
| 17006102-Indel 3 |
Intronic indel |
15.9 |
7.1 |
0.88 |
8.99 |
1 |
47,044 |
| 17006421-Indel 3 |
Intronic indel |
15.1 |
7.1 |
0.88 |
8.99 |
1 |
45,523 |
|
rs62619939 |
Leu2153Phe |
15.3 |
8.3 |
0.79 |
8.18 |
1 |
48,534 |
| rs111263197 | Intronic | 17.8 | 8.3 | 0.79 | 8.18 | 1 | 49,490 |
1 Based on 1000 Genomes Project pilot study, CEU n=120, YRI n=118.
2 In larger dataset of HAPMAP (CEU n=226, YRI n=226), the estimated minor allele frequency of rs1801239 was 7.5% in CEU and 1.8% in YRI.
3 This indel (insertion/deletion) variant was reported by 1000 Genomes Project pilot study, but has not been reported elsewhere as yet.