A Comprehensive In Silico Analysis of the Functional and Structural Impact of SNPs in the IGF1R Gene
Table 2
List of SNPs predicted to be functionally significant by FASTSNP.
dbSNP ID
Nucleotide change
Region
Level of risk
Possible functional effect
Heterozygosity
Validation
rs45437300
A/T
coding
Very High-Very High (5-5)
Nonsense
n/a
rs55895813
A/G
intronic
Medium-High (3-4)
Splicing site
n/a
rs36108138
A/C
intronic
Medium-High (3-4)
Splicing site
n/a
rs45495500
C/T
intronic
Medium-High (3-4)
Splicing site
n/a
rs34226328
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.006
2
rs35041862
C/G
coding
Low-Medium (2-3)
Splicing regulation
0.017
2
rs55770488
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs35385418
A/G
coding
Low-Medium (2-3)
Splicing regulation
0.022
1; 2
rs45504194
A/G
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs45582234
G/T
coding
Low-Medium (2-3)
Splicing regulation
0.012
rs17847210
G/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
1
rs56013396
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs35171849
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.011
1; 2
rs35812156
A/C
coding
Low-Medium (2-3)
Splicing regulation
n/a
1
rs55954954
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs45506098
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.013
1; 4; 5
rs45598332
G/T
coding
Low-Medium (2-3)
Splicing regulation
0.013
rs45615734
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs45486504
C/G
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs3743262
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.255
1; 4; 5
rs45627636
A/G
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs45443393
A/G
coding
Low-Medium (2-3)
Splicing regulation
0.011
rs45459793
A/G
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs56400113
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs35449468
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.006
1
rs17847208
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.005
1; 2
rs2229765
A/G
coding
Low-Medium (2-3)
Splicing regulation
0.458
1; 2; 3; 4
rs28664854
A/G
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs35362396
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.005
rs45598038
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
1
rs34364279
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.006
rs45468291
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs56020698
C/T
coding
Low-Medium (2-3)
Splicing regulation
n/a
rs17847203
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.170
1; 2
rs45453791
C/T
coding
Low-Medium (2-3)
Splicing regulation
0.039
1
Validation Status Description: (1) Validated by multiple, independent submissions to the refSNP cluster; (2) Validated by frequency or genotype data: minor alleles observed in at least two chromosomes; (3) All alleles have been observed in at least two chromosomes apiece; (4) Genotyped by HapMap project; (5) SNP has been sequenced in 1000 Genome project.
