AQP1
aquaporin 1 (Colton blood group)
Summary
This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2075574 | 7:30,950,744 | C/T | upstream gene variant | — |
| rs28362691 | 7:30,951,120 | G/C | upstream gene variant | — |
| rs755354795 | 7:30,951,544 | A/G | — | uncertain significance |
| rs2534992209 | 7:30,951,553 | T/G | — | uncertain significance |
| rs746048942 | 7:30,951,586 | C/T | — | likely benign |
| rs1393593188 | 7:30,951,589 | C/A | — | uncertain significance |
| rs104894004 | 7:30,951,637 | C/T | missense variant | pathogenic |
| rs565738930 | 7:30,951,638 | G/A | — | benign |
| rs28362692 | 7:30,951,658 | C/T | missense variant | benign |
| rs377506522 | 7:30,951,664 | A/G | — | uncertain significance |
| rs200496523 | 7:30,951,672 | G/A | — | uncertain significance |
| rs11537656 | 7:30,951,704 | C/T | — | benign |
| rs199545971 | 7:30,951,709 | C/T | — | uncertain significance |
| rs368313004 | 7:30,951,710 | G/A | — | likely benign |
| rs749425186 | 7:30,951,743 | C/T | — | likely benign |
| rs372063183 | 7:30,951,807 | C/T | — | uncertain significance |
| rs762474222 | 7:30,951,831 | G/C | — | uncertain significance |
| rs35804488 | 7:30,951,843 | G/A | — | benign |
| rs147400857 | 7:30,951,844 | T/G | — | benign |
| rs368861831 | 7:30,951,845 | C/T | — | likely benign |
| rs10276670 | 7:30,956,489 | A/G | intron variant | — |
| rs62449133 | 7:30,957,148 | A/G | intron variant | — |
| rs2299905 | 7:30,957,616 | A/C | — | — |
| rs2267720 | 7:30,960,995 | G/A | — | benign |
| rs755111530 | 7:30,961,671 | T/A | — | benign |
| rs781561245 | 7:30,961,700 | C/T | — | uncertain significance |
| rs117434085 | 7:30,961,701 | G/A | — | benign |
| rs768670563 | 7:30,961,720 | G/A | — | uncertain significance |
| rs760764989 | 7:30,961,749 | A/G | — | likely benign |
| rs28362730 | 7:30,961,752 | C/T | — | benign |
| rs150107539 | 7:30,961,767 | C/T | — | likely benign |
| rs886892554 | 7:30,961,781 | G/A | — | uncertain significance |
| rs780558636 | 7:30,961,786 | C/G | — | uncertain significance |
| rs28362731 | 7:30,961,790 | G/A | — | benign |
| rs2535018183 | 7:30,961,792 | G/C | — | uncertain significance |
| rs202116280 | 7:30,961,857 | G/A | — | benign |
| rs1182800426 | 7:30,961,859 | C/G | — | likely benign |
| rs28362733 | 7:30,961,994 | G/C | — | benign |
| rs143245268 | 7:30,962,211 | T/A | — | likely benign |
| rs151294803 | 7:30,963,047 | C/T | — | benign |
| rs200924730 | 7:30,963,053 | C/T | — | benign |
| rs77695754 | 7:30,963,054 | T/A | — | benign |
| rs760999882 | 7:30,963,206 | G/A | — | uncertain significance |
| rs375061904 | 7:30,963,208 | C/T | — | likely benign |
| rs751474011 | 7:30,963,453 | G/A | — | likely benign |
| rs367980461 | 7:30,963,473 | C/T | — | benign |
| rs78003203 | 7:30,963,526 | C/T | — | likely benign |
| rs1049305 | 7:30,963,822 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.