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