ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
Summary
The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Known Variants222 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745688122 | 10:97,453,654 | C/T | missense variant | pathogenic |
| rs551085719 | 10:97,453,720 | G/T | regulatory region variant | — |
| rs7085059 | 10:97,461,206 | G/C | intergenic variant | — |
| rs11188441 | 10:97,464,047 | G/T | intergenic variant | — |
| rs76311648 | 10:97,464,982 | A/G | intergenic variant | — |
| rs146837925 | 10:97,471,583 | T/C | — | likely benign |
| rs200247284 | 10:97,471,746 | G/A | — | conflicting classifications of pathogenicity |
| rs12244559 | 10:97,471,925 | T/C | — | benign |
| rs3949478 | 10:97,473,214 | A/G | intron variant | — |
| rs10882655 | 10:97,474,371 | G/A | intron variant | — |
| rs150505174 | 10:97,482,799 | C/T | intron variant | — |
| rs138153402 | 10:97,486,277 | T/C | intron variant | — |
| rs532595160 | 10:97,487,211 | G/A | — | — |
| rs899557731 | 10:97,487,418 | T/G | — | uncertain significance |
| rs7069030 | 10:97,498,222 | A/T | — | — |
| rs7086986 | 10:97,507,312 | A/T | — | — |
| rs10882659 | 10:97,510,704 | T/G | — | — |
| rs7071836 | 10:97,511,037 | A/T | — | — |
| rs7084741 | 10:97,511,467 | G/A | upstream gene variant | — |
| rs3814159 | 10:97,515,137 | G/A | — | benign |
| rs192954755 | 10:97,515,523 | G/A | — | conflicting classifications of pathogenicity |
| rs3176892 | 10:97,515,588 | T/C | — | benign |
| rs75902129 | 10:97,515,911 | A/C | — | uncertain significance |
| rs766973012 | 10:97,516,025 | T/C | — | likely benign |
| rs10748643 | 10:97,516,764 | A/G | regulatory region variant | — |
| rs1539433 | 10:97,519,645 | C/G | — | — |
| rs144972697 | 10:97,519,792 | G/A | regulatory region variant | — |
| rs4322324 | 10:97,522,415 | T/C | intron variant | — |
| rs5014871 | 10:97,522,795 | A/G | intron variant | — |
| rs182242903 | 10:97,535,558 | C/T | intron variant | — |
| rs117111993 | 10:97,538,548 | T/C | intron variant | — |
| rs190123430 | 10:97,540,263 | A/G | intron variant | — |
| rs115178468 | 10:97,549,796 | C/A | — | — |
| rs117653391 | 10:97,551,952 | G/A | intron variant | — |
| rs10882666 | 10:97,555,294 | G/T | — | — |
| rs11188488 | 10:97,559,527 | C/G | intron variant | — |
| rs4918969 | 10:97,562,938 | G/A | intron variant | — |
| rs4918970 | 10:97,563,007 | G/A | intron variant | — |
| rs7914286 | 10:97,565,783 | G/C | — | — |
| rs6584030 | 10:97,566,052 | G/C | intron variant | — |
| rs4918971 | 10:97,569,998 | C/A | — | — |
| rs10736092 | 10:97,570,315 | A/G | intron variant | — |
| rs528836763 | 10:97,571,073 | A/C | — | — |
| rs4075310 | 10:97,574,689 | C/T | intron variant | — |
| rs3176889 | 10:97,582,968 | C/T | — | likely benign |
| rs2494069061 | 10:97,582,978 | C/T | — | likely benign |
| rs770662343 | 10:97,582,981 | C/T | — | likely benign |
| rs201306382 | 10:97,582,996 | T/G | — | uncertain significance |
| rs368856010 | 10:97,583,001 | C/T | — | likely benign |
| rs150772804 | 10:97,583,002 | G/A | — | conflicting classifications of pathogenicity |
| rs773822293 | 10:97,583,006 | A/C | — | uncertain significance |
| rs766814208 | 10:97,583,016 | C/T | — | likely benign |
| rs2494070353 | 10:97,583,020 | A/G | — | uncertain significance |
| rs756263091 | 10:97,583,041 | G/T | — | uncertain significance |
| rs2140559554 | 10:97,583,055 | C/G | — | uncertain significance |
| rs2494072823 | 10:97,583,111 | A/C | — | uncertain significance |
| rs1217512827 | 10:97,583,115 | C/T | — | likely benign |
| rs771708732 | 10:97,583,116 | G/A | — | uncertain significance |
| rs1197123531 | 10:97,583,131 | A/G | — | likely benign |
| rs4917715 | 10:97,592,297 | C/G | regulatory region variant | — |
| rs4539246 | 10:97,595,045 | G/C | — | — |
| rs1269611091 | 10:97,599,435 | G/A | — | likely benign |
| rs1489542827 | 10:97,599,437 | G/A | — | likely benign |
| rs2494328715 | 10:97,599,449 | A/G | — | conflicting classifications of pathogenicity |
| rs377317244 | 10:97,599,468 | G/C | — | likely benign |
| rs1555301559 | 10:97,599,480 | C/G | — | uncertain significance |
| rs2494329534 | 10:97,599,492 | C/T | — | likely benign |
| rs746636993 | 10:97,599,508 | G/A | — | uncertain significance |
| rs538046581 | 10:97,599,531 | C/T | — | likely benign |
| rs199915134 | 10:97,599,532 | G/A | — | uncertain significance |
| rs61731067 | 10:97,599,537 | G/C | — | benign |
| rs146324431 | 10:97,599,562 | A/G | — | uncertain significance |
| rs371120547 | 10:97,599,574 | A/G | — | likely benign |
| rs1403275794 | 10:97,599,582 | G/A | — | likely benign |
| rs11188501 | 10:97,600,919 | G/A | intron variant | — |
| rs10748649 | 10:97,601,703 | A/T | — | — |
| rs3181132 | 10:97,601,894 | A/G | — | benign |
| rs74153925 | 10:97,601,974 | A/G | — | benign |
| rs3181131 | 10:97,602,091 | T/C | — | benign |
| rs2098424427 | 10:97,602,122 | T/C | — | uncertain significance |
| rs2098424452 | 10:97,602,142 | G/C | — | uncertain significance |
| rs139597339 | 10:97,602,163 | A/C | — | uncertain significance |
| rs751335015 | 10:97,602,167 | A/T | — | uncertain significance |
| rs149992374 | 10:97,602,214 | G/A | — | uncertain significance |
| rs1190820564 | 10:97,602,231 | G/A | — | likely benign |
| rs2494373406 | 10:97,602,233 | C/A | — | uncertain significance |
| rs1409562851 | 10:97,602,237 | C/T | — | uncertain significance |
| rs1480686371 | 10:97,602,239 | T/G | — | uncertain significance |
| rs2140831910 | 10:97,602,243 | G/T | — | likely benign |
| rs2861152 | 10:97,603,163 | G/C | — | — |
| rs2494401029 | 10:97,604,216 | G/T | — | likely benign |
| rs2494401172 | 10:97,604,220 | T/C | — | likely benign |
| rs1214012122 | 10:97,604,227 | G/A | — | likely benign |
| rs762979493 | 10:97,604,238 | A/C | — | uncertain significance |
| rs148809600 | 10:97,604,243 | G/C | — | uncertain significance |
| rs142431233 | 10:97,604,260 | G/C | — | uncertain significance |
| rs760388886 | 10:97,604,273 | G/T | — | uncertain significance |
| rs753358713 | 10:97,604,278 | G/A | — | likely benign |
| rs2494403024 | 10:97,604,298 | C/T | — | uncertain significance |
| rs748573011 | 10:97,604,310 | A/G | — | uncertain significance |
Showing 100 of 222 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.