Skip to main content

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)

From: Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations

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

0 2

6.7 2

--

--

--

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. 1 Based on 1000 Genomes Project pilot study, CEU n=120, YRI n=118.
  2. 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. 3 This indel (insertion/deletion) variant was reported by 1000 Genomes Project pilot study, but has not been reported elsewhere as yet.