|
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. |
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| Variant |
Unique NCBI Identifier |
Minor Allele Frequency (%) |
|
|
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| aTGFBR1: c.694A>C |
ss50394789 |
4.3 |
| aTGFBR1: c.*899T>C |
ss50394790 |
2.2 |
| aTGFBR1: c.*921T>G |
ss50394793 |
4.3 |
| aTGFBR1: c.*978G>A |
ss50394791 |
1.1 |
| aTGFBR1: c.*1004A>T |
ss50394792 |
2.2 |
| TGFBR2: c.263+7A>G |
rs1155705 |
10.8 |
| aTGFBR2: c.263+17A>C |
ss50394787 |
1.1 |
| TGFBR2: c.445-111A>G |
rs17026161 |
2.2 |
| TGFBR2: c.445-4T>A |
rs11466512 |
21.7 |
| aTGFBR2: 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 |
|
aNovel SNPs accepted by dbSNP | ||
McKnight et al. BMC Medical Genetics 2007 8:5 doi:10.1186/1471-2350-8-5 |
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