SORBS1
sorbin and SH3 domain containing 1
Summary
This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants114 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61739185 | 10:97,074,861 | C/T | — | benign |
| rs61739187 | 10:97,074,865 | T/C | — | benign |
| rs1413077175 | 10:97,078,125 | C/T | — | uncertain significance |
| rs141000980 | 10:97,078,127 | T/C | — | uncertain significance |
| rs200315862 | 10:97,078,128 | C/A | — | uncertain significance |
| rs756605275 | 10:97,078,141 | C/T | — | likely benign |
| rs762538820 | 10:97,081,759 | C/T | — | uncertain significance |
| rs767849627 | 10:97,096,297 | G/A | — | uncertain significance |
| rs994402476 | 10:97,096,333 | C/T | — | uncertain significance |
| rs144903641 | 10:97,096,334 | G/A | — | uncertain significance |
| rs564400446 | 10:97,096,367 | C/T | — | uncertain significance |
| rs764113108 | 10:97,096,385 | C/T | — | likely benign |
| rs546586748 | 10:97,096,498 | G/T | — | uncertain significance |
| rs114563132 | 10:97,096,508 | C/T | — | uncertain significance |
| rs144715312 | 10:97,096,556 | G/A | — | uncertain significance |
| rs751389380 | 10:97,096,561 | G/A | — | uncertain significance |
| rs777280158 | 10:97,096,610 | C/T | — | uncertain significance |
| rs1475396735 | 10:97,096,663 | G/A | — | uncertain significance |
| rs760310626 | 10:97,096,686 | G/C | — | uncertain significance |
| rs193920900 | 10:97,096,777 | C/G | — | uncertain significance |
| rs761483637 | 10:97,096,789 | C/T | — | uncertain significance |
| rs764678128 | 10:97,096,790 | G/A | — | uncertain significance |
| rs758446171 | 10:97,096,910 | G/C | — | uncertain significance |
| rs368402516 | 10:97,096,922 | G/A | — | uncertain significance |
| rs770626245 | 10:97,096,996 | C/T | — | likely benign |
| rs759143858 | 10:97,097,003 | G/C | — | uncertain significance |
| rs149908682 | 10:97,097,026 | G/A | — | likely benign |
| rs771665403 | 10:97,098,913 | G/A | — | uncertain significance |
| rs375893693 | 10:97,098,921 | G/C | — | uncertain significance |
| rs756041432 | 10:97,098,970 | G/A | — | uncertain significance |
| rs867269550 | 10:97,098,988 | C/T | — | uncertain significance |
| rs759688938 | 10:97,099,026 | G/A | — | uncertain significance |
| rs140879014 | 10:97,099,039 | C/T | — | uncertain significance |
| rs2054914048 | 10:97,099,059 | T/A | — | uncertain significance |
| rs143201108 | 10:97,099,073 | G/C | — | uncertain significance |
| rs7913427 | 10:97,101,036 | G/C | — | benign |
| rs78981710 | 10:97,101,142 | T/C | — | benign |
| rs570319851 | 10:97,101,335 | G/A | — | uncertain significance |
| rs2499923931 | 10:97,111,007 | G/C | — | uncertain significance |
| rs2499925363 | 10:97,111,017 | A/C | — | uncertain significance |
| rs764585253 | 10:97,111,052 | G/C | — | uncertain significance |
| rs754068814 | 10:97,111,058 | C/T | — | uncertain significance |
| rs370181498 | 10:97,111,103 | G/A | — | uncertain significance |
| rs115082581 | 10:97,111,123 | G/A | — | uncertain significance |
| rs768912010 | 10:97,114,676 | G/A | — | uncertain significance |
| rs2500627435 | 10:97,114,704 | A/C | — | uncertain significance |
| rs147257994 | 10:97,114,715 | G/A | — | uncertain significance |
| rs61739253 | 10:97,117,497 | A/G | — | benign |
| rs775989580 | 10:97,117,528 | C/T | — | uncertain significance |
| rs200470697 | 10:97,117,549 | G/T | — | uncertain significance |
| rs144821024 | 10:97,117,557 | T/C | — | uncertain significance |
| rs4918918 | 10:97,122,241 | T/A | — | — |
| rs117854207 | 10:97,128,934 | T/C | intron variant | — |
| rs200104837 | 10:97,131,117 | G/A | — | uncertain significance |
| rs2504221113 | 10:97,131,181 | T/C | — | uncertain significance |
| rs774299946 | 10:97,131,764 | T/C | — | uncertain significance |
| rs775323000 | 10:97,131,791 | A/G | — | uncertain significance |
| rs369258399 | 10:97,135,731 | G/A | — | uncertain significance |
| rs139885781 | 10:97,135,752 | G/A | — | uncertain significance |
| rs570739677 | 10:97,135,806 | T/A | — | uncertain significance |
| rs749701885 | 10:97,135,822 | G/A | — | likely benign |
| rs751865688 | 10:97,141,452 | T/C | — | uncertain significance |
| rs945564833 | 10:97,141,497 | T/C | — | uncertain significance |
| rs2505897516 | 10:97,141,500 | G/T | — | uncertain significance |
| rs546157996 | 10:97,141,519 | T/C | — | uncertain significance |
| rs377637504 | 10:97,143,751 | C/G | — | uncertain significance |
| rs752689599 | 10:97,143,775 | G/A | — | uncertain significance |
| rs202141226 | 10:97,143,796 | G/A | — | uncertain significance |
| rs1383085015 | 10:97,143,823 | A/G | — | uncertain significance |
| rs960134863 | 10:97,143,842 | T/C | — | uncertain significance |
| rs370290679 | 10:97,143,847 | C/T | — | uncertain significance |
| rs145489487 | 10:97,143,933 | A/T | regulatory region variant | — |
| rs73319274 | 10:97,144,032 | T/C | — | benign |
| rs2060303448 | 10:97,154,407 | A/G | — | uncertain significance |
| rs141399089 | 10:97,154,761 | C/T | — | uncertain significance |
| rs2060461297 | 10:97,154,787 | T/A | — | uncertain significance |
| rs1478493075 | 10:97,158,776 | G/A | — | uncertain significance |
| rs2509941263 | 10:97,165,883 | C/T | — | uncertain significance |
| rs142682632 | 10:97,165,884 | T/C | — | uncertain significance |
| rs2065062047 | 10:97,165,895 | T/G | — | uncertain significance |
| rs2509943717 | 10:97,165,900 | C/G | — | uncertain significance |
| rs1371974935 | 10:97,165,902 | G/C | — | uncertain significance |
| rs980759317 | 10:97,170,447 | C/T | — | uncertain significance |
| rs762953530 | 10:97,170,493 | A/C | — | uncertain significance |
| rs774264197 | 10:97,170,494 | A/T | — | uncertain significance |
| rs370850385 | 10:97,174,258 | G/C | — | uncertain significance |
| rs748181125 | 10:97,174,259 | A/T | — | uncertain significance |
| rs993074377 | 10:97,174,270 | G/A | — | uncertain significance |
| rs377596393 | 10:97,174,285 | G/A | — | likely benign |
| rs114290141 | 10:97,174,316 | G/T | — | likely benign |
| rs751462546 | 10:97,174,409 | A/C | — | uncertain significance |
| rs372777541 | 10:97,174,447 | G/A | — | uncertain significance |
| rs147826468 | 10:97,174,475 | C/G | — | uncertain significance |
| rs376993697 | 10:97,174,541 | C/T | — | uncertain significance |
| rs1468515538 | 10:97,174,562 | C/G | — | uncertain significance |
| rs754567506 | 10:97,181,740 | T/C | — | likely benign |
| rs17849160 | 10:97,192,257 | T/G | — | benign |
| rs924443600 | 10:97,194,424 | G/A | — | uncertain significance |
| rs139115529 | 10:97,194,450 | C/T | — | uncertain significance |
| rs747615961 | 10:97,194,454 | C/A | — | uncertain significance |
Showing 100 of 114 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.