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 DQ383416DQ383424 and DQ377553DQ37759 respectively.

Variant
Unique NCBI Identifier
Minor Allele Frequency (%)

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