SFTPD
surfactant protein D
Summary
The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4469829 | 10:81,697,811 | C/T | — | benign |
| rs1051246 | 10:81,697,818 | A/G | synonymous variant | benign |
| rs763277511 | 10:81,697,841 | C/A | — | uncertain significance |
| rs369866808 | 10:81,697,853 | C/T | — | uncertain significance |
| rs3088308 | 10:81,697,868 | A/T | missense variant | benign |
| rs200300388 | 10:81,697,911 | C/T | — | benign |
| rs2819098 | 10:81,698,097 | G/A | — | benign |
| rs1842602162 | 10:81,700,469 | T/C | — | uncertain significance |
| rs374155865 | 10:81,700,544 | T/C | — | uncertain significance |
| rs2492074235 | 10:81,701,265 | C/A | — | uncertain significance |
| rs911887 | 10:81,701,523 | T/C | intron variant | benign |
| rs2243639 | 10:81,701,722 | T/C | missense variant | benign |
| rs2492076469 | 10:81,701,730 | G/C | — | uncertain significance |
| rs986547967 | 10:81,701,775 | G/A | — | uncertain significance |
| rs766504455 | 10:81,701,776 | C/T | — | uncertain significance |
| rs781195445 | 10:81,702,177 | T/C | — | uncertain significance |
| rs17878336 | 10:81,702,210 | G/C | — | benign |
| rs370352980 | 10:81,702,243 | C/T | — | uncertain significance |
| rs17885228 | 10:81,702,538 | T/C | — | benign |
| rs374491984 | 10:81,702,631 | C/A | — | uncertain significance |
| rs10887199 | 10:81,702,834 | T/G | — | — |
| rs17886286 | 10:81,703,852 | C/A | — | — |
| rs2181205 | 10:81,704,156 | G/A | intron variant | — |
| rs141746653 | 10:81,705,190 | G/A | intron variant | — |
| rs7078012 | 10:81,705,433 | C/A | — | — |
| rs6413522 | 10:81,706,208 | C/T | — | benign |
| rs768669170 | 10:81,706,237 | C/T | — | uncertain significance |
| rs2492090174 | 10:81,706,243 | C/T | — | uncertain significance |
| rs2492090182 | 10:81,706,244 | C/T | — | uncertain significance |
| rs142564545 | 10:81,706,258 | C/T | — | likely benign |
| rs6413520 | 10:81,706,281 | G/A | — | benign |
| rs864309581 | 10:81,706,306 | A/T | — | uncertain significance |
| rs721917 | 10:81,706,324 | A/G | missense variant | benign |
| rs375725771 | 10:81,706,336 | G/A | — | uncertain significance |
| rs754651949 | 10:81,706,382 | G/T | — | uncertain significance |
| rs726288 | 10:81,706,973 | C/T | intron variant | — |
| rs12219080 | 10:81,709,279 | C/A | — | — |
| rs1923534 | 10:81,710,485 | A/G | upstream gene variant | — |
| rs183457884 | 10:81,720,870 | T/C | intron variant | — |
| rs576683452 | 10:81,723,028 | A/G | — | — |
| rs61860402 | 10:81,723,695 | C/A | — | — |
| rs553469225 | 10:81,727,192 | G/A | — | — |
| rs3923564 | 10:81,735,981 | A/G | downstream gene variant | — |
| rs141915042 | 10:81,741,061 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.