IGF1R
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | insulin-like growth factor 1 receptor |
| EntrezGene | 3480 |
| PheGenI | 3480 |
| VariationViewer | 3480 |
| ClinVar | IGF1R |
| GeneCards | IGF1R |
| dbSNP | 3480 |
| Diseases | IGF1R |
| SADR | 3480 |
| HugeNav | 3480 |
| wikipedia | IGF1R |
| IGF1R | |
| gopubmed | IGF1R |
| EVS | IGF1R |
| HEFalMp | IGF1R |
| MyGene2 | IGF1R |
| 23andMe | IGF1R |
| UniProt | P08069 |
| Ensembl | ENSG00000140443 |
| OMIM | 147370 |
| # SNPs | 24 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057524426 | 0 | 98,913,043 | |
| rs1064793151 | 0 | 98,707,790 | |
| rs121912426 | 0 | 98,707,880 | |
| rs121912427 | 0 | 98,707,902 | |
| rs121912428 | 0 | 98,707,732 | |
| rs121912429 | 0 | 98,922,162 | |
| rs12440962 | 0 | 98,956,835 | |
| rs1976667 | 0 | 98,693,273 | |
| rs2229765 | 2.1 | 98,934,996 | |
| rs2715439 | 0 | 98,949,084 | |
| rs28457673 | 0 | 98,958,173 | |
| rs28674628 | 0 | 98,962,599 | |
| rs2871865 | 0 | 98,651,667 | |
| rs2872060 | 0 | 98,956,264 | |
| rs33958176 | 0 | 98,911,384 | |
| rs34516635 | 1.5 | 98,908,747 | Longevity and height for Ashkenazi Jewish women. |
| rs3743262 | 0 | 98,922,244 | |
| rs4966035 | 0 | 98,886,233 | |
| rs6598541 | 0 | 98,727,906 | |
| rs7166348 | 0 | 98,704,566 | |
| rs750280055 | 0 | 98,916,666 | |
| rs8034284 | 0 | 98,953,019 | |
| rs8038415 | 0 | 98,956,205 | |
| rs886042346 | 0 | 98,935,314 |
IGF1R, along the the IGF1 gene, has been linked to several conditions, including;
Nonsynonymous
244G>A Ala-37–Thr 1 0 0 0 rs34516635 1355G�A Arg-407–His 1 0 0 0
Synonymous
rs35812156 948C�A Gly-271–Gly 7 0 16 0 1545G>A Thr-470–Thr 1 0 0 0 rs45506098 1959C�T Asn-608–Asn 0 0 1 0 1995G>T Arg-620–Arg 0 0 1 0 rs3743262 2343C�T Thr-736–Thr 3 0 2 0 2745C>T Asn-870–Asn 1 0 3 0 rs2229765 3174G�A Glu-013–Glu 48 20 67 29 rs17847203 4083C�T Tyr-1316–Tyr 5 0 7 0 4103C>T Arg-1323–Arg 1 0 0 0
Intronic
IVS2�20C�T 42 8 65 12 IVS8–20T�C 49 13 67 34 IVS13�17G>A 1 0 2 0 IVS13�21A�C 47 3 62 41 IVS13�29�30delGT 26 1 38 3 IVS15�49insG 1 0 0 0 IVS15�52A>G 0 0 1 0 IVS17�5C>T 1 0 3 0 IVS21–34G�A 46 15 59 42
