Table 2.
TRPC1 SNPs and MAFs in GoKinD Caucasian type 1 diabetic subjects with and without diabetic nephropathy
| dbSNP rsID |
SNP type |
Position in chr. 3 |
Genomic/cDNA identity∗ |
Location |
Group |
n |
MAF |
|---|---|---|---|---|---|---|---|
| rs953239 | M= A/C | 143928895 | g.48941351A>C | intron1 | T1DwithDN | 576 | C0.419 |
| T1Dwithout DN |
598 |
C0.409 |
|||||
| rs7638459 | Y= C/T | 143972841 | g.48985297T>C | intron3 | T1DwithDN | 576 | C0.213 |
| T1Dwithout DN |
599 |
C0.191 |
|||||
| rs17624218 | Y= C/T | 143983170 | g.48995626T>C | intron5 | T1DwithDN | 577 | C0.210 |
| T1Dwithout DN |
599 |
C0.217 |
|||||
| rs7621642 | R= A/G | 143986295 | g.48998751G>A | exon6 | T1DwithDN | 576 | A0.213 |
| c.1054G>A(S306S) |
T1D without DN |
596 |
A0.191 |
||||
| rs2033912 | W= A/T | 143999057 | g.49011513A>T | intron8 | T1DwithDN | 578 | T0.213 |
| T1Dwithout DN |
599 |
T 0.191 |
|||||
| rs3821647 | R= A/G | 144006039 | g.49018495G>A | exon11 | T1DwithDN | 578 | A0.189 |
| c.2065G>A(T643T) |
T1D without DN |
599 |
A0.167 |
||||
| rs7610200 | R= A/G | 144007548 | g.49020004G>A | exon12 | T1DwithDN | 578 | A0.192 |
| c.2197G>A(R687R) | T1D without DN | 599 | A0.168 |
T1D = Type 1 diabetes; DN = diabetic nephropathy; n = number of samples genotyped; MAF = minor allele frequency.
M = Adenine or cytosine; Y = cytosine or thymine; R = adenine or guanine; W = adenine or thymine.
∗
References: NT_005612.15, NM_003304 and NP_003295. M, Y, R and W are International Union of Pure and Applied Chemistry (IUPAC) codes used in FASTA sequences at the SNP position.