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Table 6 Minor allele frequencies of identified variants in TGFBR1 and TGFBR2 genes, based on genotyping of 48 healthy control individuals. Accepted GenBank accession numbers for the reference sequences describing TGFBR1 and TGFBR2 gene variants are DQ383416 – DQ383424 and DQ377553 – DQ37759 respectively.

From: Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy

Variant

Unique NCBI Identifier

Minor Allele Frequency (%)

a TGFBR1: c.694A>C

ss50394789

4.3

a TGFBR1: c.*899T>C

ss50394790

2.2

a TGFBR1: c.*921T>G

ss50394793

4.3

a TGFBR1: c.*978G>A

ss50394791

1.1

a TGFBR1: c.*1004A>T

ss50394792

2.2

TGFBR2: c.263+7A>G

rs1155705

10.8

a TGFBR2: c.263+17A>C

ss50394787

1.1

TGFBR2: c.445-111A>G

rs17026161

2.2

TGFBR2: c.445-4T>A

rs11466512

21.7

a TGFBR2: c.1149G>A

ss50394788

1.1

TGFBR2: c.1157C>T

rs2228048

2.2

TGFBR2: c.1515-91C>A

rs2276767

4.3

TGFBR2: c.*327-329delAT

rs4016180

21.7

TGFBR2: c.*747C>G

rs11466531

7.6

TGFBR2: c.*835C>A

rs17026332

2.2

  1. aNovel SNPs accepted by dbSNP
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BMC Medical Genetics

ISSN: 1471-2350

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