| 8560157 | CV22903 | single nucleotide variant | NM_000961.4(PTGIS):c.1358+2T>C | Essential hypertension [RCV000008314] | pathogenic | 20 | 49511026 | 49511026 | Human | 1 | name |
| 150332150 | CV1173362 | microsatellite | NM_000961.3(PTGIS):c.-19_-2dup18 | PTGIS-related disorder [RCV003980667]|not provided [RCV001538923] | benign | 20 | 49568117 | 49568118 | Human | | name , trait , alternate_id |
| 405673346 | CV3377807 | single nucleotide variant | NM_000961.4(PTGIS):c.10G>A (p.Ala4Thr) | not specified [RCV004515667] | uncertain significance | 20 | 49568107 | 49568107 | Human | | name |
| 150460045 | CV1253045 | single nucleotide variant | NM_000961.4(PTGIS):c.723A>G (p.Leu241=) | not provided [RCV001669373] | benign | 20 | 49524190 | 49524190 | Human | | name |
| 405275018 | CV3199906 | single nucleotide variant | NM_000961.4(PTGIS):c.768G>A (p.Leu256=) | PTGIS-related disorder [RCV003973937] | benign | 20 | 49524145 | 49524145 | Human | | name , trait , alternate_id |
| 405277238 | CV3210574 | single nucleotide variant | NM_000961.4(PTGIS):c.591C>T (p.Arg197=) | PTGIS-related disorder [RCV003917387] | benign | 20 | 49539652 | 49539652 | Human | | name , trait , alternate_id |
| 8628542 | CV83686 | single nucleotide variant | NM_000961.3(PTGIS):c.894C>T (p.Phe298=) | Malignant melanoma [RCV000063767] | not provided | 20 | 49514357 | 49514357 | Human | | name |
| 8637363 | CV92589 | single nucleotide variant | NM_000961.3(PTGIS):c.681G>A (p.Lys227=) | Malignant melanoma [RCV000072687] | not provided | 20 | 49524232 | 49524232 | Human | | name |
| 126738264 | CV1022011 | single nucleotide variant | NM_000961.4(PTGIS):c.283G>A (p.Asp95Asn) | Essential hypertension [RCV001335484] | uncertain significance | 20 | 49547935 | 49547935 | Human | 1 | name |
| 156035480 | CV2246781 | single nucleotide variant | NM_000961.4(PTGIS):c.268C>A (p.Pro90Thr) | not specified [RCV004112313] | uncertain significance | 20 | 49547950 | 49547950 | Human | | name |
| 329379694 | CV2443519 | single nucleotide variant | NM_000961.4(PTGIS):c.184G>A (p.Gly62Ser) | not specified [RCV004262352] | uncertain significance | 20 | 49550080 | 49550080 | Human | | name |
| 401733477 | CV2682125 | single nucleotide variant | NM_000961.4(PTGIS):c.128C>A (p.Ala43Asp) | not specified [RCV004290180] | uncertain significance | 20 | 49550136 | 49550136 | Human | | name |
| 401749623 | CV2710849 | single nucleotide variant | NM_000961.4(PTGIS):c.226G>A (p.Val76Ile) | not specified [RCV004308769] | likely benign | 20 | 49547992 | 49547992 | Human | | name |
| 405288293 | CV3197301 | single nucleotide variant | NM_000961.4(PTGIS):c.1117C>A (p.Arg373=) | PTGIS-related disorder [RCV003982397] | benign | 20 | 49513169 | 49513169 | Human | | name , trait , alternate_id |
| 405673366 | CV3377812 | single nucleotide variant | NM_000961.4(PTGIS):c.171G>A (p.Met57Ile) | not specified [RCV004515672] | uncertain significance | 20 | 49550093 | 49550093 | Human | | name |
| 405673372 | CV3377813 | single nucleotide variant | NM_000961.4(PTGIS):c.215G>A (p.Arg72Lys) | not specified [RCV004515673] | uncertain significance | 20 | 49548003 | 49548003 | Human | | name |
| 405673376 | CV3377814 | single nucleotide variant | NM_000961.4(PTGIS):c.254C>T (p.Ala85Val) | not specified [RCV004515674] | uncertain significance | 20 | 49547964 | 49547964 | Human | | name |
| 597751799 | CV3588760 | single nucleotide variant | NM_000961.4(PTGIS):c.257T>C (p.Val86Ala) | not specified [RCV004846734] | uncertain significance | 20 | 49547961 | 49547961 | Human | | name |
| 8628541 | CV83685 | single nucleotide variant | NM_000961.3(PTGIS):c.1071C>T (p.Ile357=) | Malignant melanoma [RCV000063766] | not provided | 20 | 49513215 | 49513215 | Human | | name |
| 10448557 | CV204627 | single nucleotide variant | NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln) | Childhood-onset schizophrenia [RCV000202340] | likely pathogenic | 20 | 49524089 | 49524089 | Human | 1 | name |
| 155946723 | CV2238167 | single nucleotide variant | NM_000961.4(PTGIS):c.823C>T (p.Arg275Trp) | not specified [RCV004111171] | uncertain significance | 20 | 49524090 | 49524090 | Human | | name |
| 156247155 | CV2263837 | single nucleotide variant | NM_000961.4(PTGIS):c.707G>T (p.Arg236Leu) | not specified [RCV004137897] | uncertain significance | 20 | 49524206 | 49524206 | Human | | name |
| 155914852 | CV2264704 | single nucleotide variant | NM_000961.4(PTGIS):c.914C>T (p.Ala305Val) | not specified [RCV004132697] | uncertain significance | 20 | 49514337 | 49514337 | Human | | name |
| 156362697 | CV2265587 | single nucleotide variant | NM_000961.4(PTGIS):c.772A>T (p.Ser258Cys) | not specified [RCV004124323] | uncertain significance | 20 | 49524141 | 49524141 | Human | | name |
| 156339965 | CV2268039 | single nucleotide variant | NM_000961.4(PTGIS):c.344A>G (p.Tyr115Cys) | not specified [RCV004136590] | uncertain significance | 20 | 49547874 | 49547874 | Human | | name |
| 156185812 | CV2292347 | single nucleotide variant | NM_000961.4(PTGIS):c.765G>T (p.Trp255Cys) | not specified [RCV004150158] | uncertain significance | 20 | 49524148 | 49524148 | Human | | name |
| 156150089 | CV2359581 | single nucleotide variant | NM_000961.4(PTGIS):c.862A>G (p.Met288Val) | not specified [RCV004214882] | uncertain significance | 20 | 49514389 | 49514389 | Human | | name |
| 155990432 | CV2372046 | single nucleotide variant | NM_000961.4(PTGIS):c.380C>T (p.Thr127Ile) | not specified [RCV004221716] | uncertain significance | 20 | 49544446 | 49544446 | Human | | name |
| 156168648 | CV2373813 | single nucleotide variant | NM_000961.4(PTGIS):c.635G>A (p.Arg212Gln) | not specified [RCV004224752] | uncertain significance | 20 | 49539608 | 49539608 | Human | | name |
| 329367750 | CV2427539 | single nucleotide variant | NM_000961.4(PTGIS):c.725C>T (p.Ser242Phe) | Essential hypertension, genetic [RCV003492847]|not specified [RCV004250177] | uncertain significance | 20 | 49524188 | 49524188 | Human | 1 | name |
| 329381645 | CV2441477 | single nucleotide variant | NM_000961.4(PTGIS):c.313G>A (p.Glu105Lys) | not specified [RCV004257272] | uncertain significance | 20 | 49547905 | 49547905 | Human | | name |
| 329395442 | CV2458374 | single nucleotide variant | NM_000961.4(PTGIS):c.439G>C (p.Val147Leu) | not specified [RCV004266011] | uncertain significance | 20 | 49544387 | 49544387 | Human | | name |
| 401741560 | CV2680435 | single nucleotide variant | NM_000961.4(PTGIS):c.623G>A (p.Arg208His) | not specified [RCV004288675] | uncertain significance | 20 | 49539620 | 49539620 | Human | | name |
| 401740071 | CV2684257 | single nucleotide variant | NM_000961.4(PTGIS):c.719T>A (p.Leu240Gln) | not specified [RCV004288917] | uncertain significance | 20 | 49524194 | 49524194 | Human | | name |
| 401740276 | CV2684315 | single nucleotide variant | NM_000961.4(PTGIS):c.563G>A (p.Arg188His) | not specified [RCV004288967] | uncertain significance | 20 | 49539680 | 49539680 | Human | | name |
| 401776301 | CV2706963 | single nucleotide variant | NM_000961.4(PTGIS):c.581C>T (p.Ala194Val) | not specified [RCV004321565] | uncertain significance | 20 | 49539662 | 49539662 | Human | | name |
| 401754687 | CV2719699 | single nucleotide variant | NM_000961.4(PTGIS):c.455C>T (p.Ala152Val) | not specified [RCV004329140] | uncertain significance | 20 | 49544371 | 49544371 | Human | | name |
| 401877746 | CV2761296 | single nucleotide variant | NM_000961.4(PTGIS):c.928C>T (p.Arg310Cys) | not specified [RCV004341166] | uncertain significance | 20 | 49514323 | 49514323 | Human | | name |
| 401887206 | CV2775760 | single nucleotide variant | NM_000961.4(PTGIS):c.560C>T (p.Pro187Leu) | not specified [RCV004350883] | uncertain significance | 20 | 49539683 | 49539683 | Human | | name |
| 401891004 | CV2778591 | single nucleotide variant | NM_000961.4(PTGIS):c.860A>G (p.Asn287Ser) | not specified [RCV004344242] | uncertain significance | 20 | 49514391 | 49514391 | Human | | name |
| 401891812 | CV2779468 | single nucleotide variant | NM_000961.4(PTGIS):c.478C>T (p.His160Tyr) | not specified [RCV004351102] | uncertain significance | 20 | 49544348 | 49544348 | Human | | name |
| 405287348 | CV3205671 | single nucleotide variant | NM_000961.4(PTGIS):c.754C>T (p.Arg252Trp) | PTGIS-related disorder [RCV003959798] | likely benign | 20 | 49524159 | 49524159 | Human | | name , trait , alternate_id |
| 405673382 | CV3377815 | single nucleotide variant | NM_000961.4(PTGIS):c.422A>G (p.Tyr141Cys) | not specified [RCV004515675] | uncertain significance | 20 | 49544404 | 49544404 | Human | | name |
| 405673385 | CV3377816 | single nucleotide variant | NM_000961.4(PTGIS):c.579G>T (p.Gln193His) | not specified [RCV004515676] | uncertain significance | 20 | 49539664 | 49539664 | Human | | name |
| 405673389 | CV3377817 | single nucleotide variant | NM_000961.4(PTGIS):c.685C>G (p.His229Asp) | not specified [RCV004515677] | uncertain significance | 20 | 49524228 | 49524228 | Human | | name |
| 405673393 | CV3377818 | single nucleotide variant | NM_000961.4(PTGIS):c.701A>G (p.Lys234Arg) | not specified [RCV004515678] | uncertain significance | 20 | 49524212 | 49524212 | Human | | name |
| 407472167 | CV3468296 | single nucleotide variant | NM_000961.4(PTGIS):c.735G>T (p.Arg245Ser) | not specified [RCV004662454] | uncertain significance | 20 | 49524178 | 49524178 | Human | | name |
| 597751785 | CV3588757 | single nucleotide variant | NM_000961.4(PTGIS):c.616A>G (p.Thr206Ala) | not specified [RCV004846731] | uncertain significance | 20 | 49539627 | 49539627 | Human | | name |
| 597751790 | CV3588758 | single nucleotide variant | NM_000961.4(PTGIS):c.797T>C (p.Met266Thr) | not specified [RCV004846732] | uncertain significance | 20 | 49524116 | 49524116 | Human | | name |
| 597751803 | CV3588761 | single nucleotide variant | NM_000961.4(PTGIS):c.937C>G (p.Leu313Val) | not specified [RCV004846735] | uncertain significance | 20 | 49514314 | 49514314 | Human | | name |
| 597751807 | CV3588762 | single nucleotide variant | NM_000961.4(PTGIS):c.524C>T (p.Ala175Val) | not specified [RCV004846736] | uncertain significance | 20 | 49539719 | 49539719 | Human | | name |
| 597751812 | CV3588763 | single nucleotide variant | NM_000961.4(PTGIS):c.676G>C (p.Asp226His) | not specified [RCV004846737] | uncertain significance | 20 | 49524237 | 49524237 | Human | | name |
| 598172720 | CV3904671 | single nucleotide variant | NM_000961.4(PTGIS):c.527G>A (p.Gly176Asp) | not specified [RCV005263586] | uncertain significance | 20 | 49539716 | 49539716 | Human | | name |
| 598172727 | CV3904672 | single nucleotide variant | NM_000961.4(PTGIS):c.451G>A (p.Asp151Asn) | not specified [RCV005263587] | uncertain significance | 20 | 49544375 | 49544375 | Human | | name |
| 598172740 | CV3904674 | single nucleotide variant | NM_000961.4(PTGIS):c.958G>A (p.Ala320Thr) | not specified [RCV005263589] | uncertain significance | 20 | 49514293 | 49514293 | Human | | name |
| 598172747 | CV3904675 | single nucleotide variant | NM_000961.4(PTGIS):c.434A>C (p.His145Pro) | not specified [RCV005263590] | uncertain significance | 20 | 49544392 | 49544392 | Human | | name |
| 15123262 | CV717034 | single nucleotide variant | NM_000961.4(PTGIS):c.706C>T (p.Arg236Cys) | not provided [RCV000963208] | benign | 20 | 49524207 | 49524207 | Human | | name |
| 155930583 | CV2361187 | single nucleotide variant | NM_000961.4(PTGIS):c.1030G>A (p.Val344Met) | not specified [RCV004216370] | uncertain significance | 20 | 49513256 | 49513256 | Human | | name |
| 156061409 | CV2380235 | single nucleotide variant | NM_000961.4(PTGIS):c.1073C>A (p.Thr358Asn) | not specified [RCV004224594] | uncertain significance | 20 | 49513213 | 49513213 | Human | | name |
| 329382881 | CV2424584 | single nucleotide variant | NM_000961.4(PTGIS):c.1405G>A (p.Ala469Thr) | not specified [RCV004254083] | uncertain significance | 20 | 49508018 | 49508018 | Human | | name |
| 329354267 | CV2437787 | single nucleotide variant | NM_000961.4(PTGIS):c.1366T>C (p.Phe456Leu) | not specified [RCV004261087] | uncertain significance | 20 | 49508057 | 49508057 | Human | | name |
| 329360628 | CV2439542 | single nucleotide variant | NM_000961.4(PTGIS):c.1382A>C (p.His461Pro) | not specified [RCV004255569] | uncertain significance | 20 | 49508041 | 49508041 | Human | | name |
| 329368771 | CV2450411 | single nucleotide variant | NM_000961.4(PTGIS):c.1385T>G (p.Leu462Trp) | not specified [RCV004265340] | uncertain significance | 20 | 49508038 | 49508038 | Human | | name |
| 401747672 | CV2696763 | single nucleotide variant | NM_000961.4(PTGIS):c.1030G>C (p.Val344Leu) | not specified [RCV004290735] | uncertain significance | 20 | 49513256 | 49513256 | Human | | name |
| 401767396 | CV2729634 | single nucleotide variant | NM_000961.4(PTGIS):c.1489C>T (p.Arg497Cys) | not specified [RCV004331896] | uncertain significance | 20 | 49507934 | 49507934 | Human | | name |
| 405673351 | CV3377808 | single nucleotide variant | NM_000961.4(PTGIS):c.1103C>T (p.Pro368Leu) | not specified [RCV004515668] | uncertain significance | 20 | 49513183 | 49513183 | Human | | name |
| 405673358 | CV3377810 | single nucleotide variant | NM_000961.4(PTGIS):c.1114G>A (p.Gly372Arg) | not specified [RCV004515670] | uncertain significance | 20 | 49513172 | 49513172 | Human | | name |
| 405673362 | CV3377811 | single nucleotide variant | NM_000961.4(PTGIS):c.1473C>A (p.Asp491Glu) | not specified [RCV004515671] | uncertain significance | 20 | 49507950 | 49507950 | Human | | name |
| 407472162 | CV3468295 | single nucleotide variant | NM_000961.4(PTGIS):c.1495C>T (p.Arg499Cys) | not specified [RCV004662453] | uncertain significance | 20 | 49507928 | 49507928 | Human | | name |
| 407472172 | CV3468297 | single nucleotide variant | NM_000961.4(PTGIS):c.1403A>T (p.Asn468Ile) | not specified [RCV004662455] | uncertain significance | 20 | 49508020 | 49508020 | Human | | name |
| 597751780 | CV3588756 | single nucleotide variant | NM_000961.4(PTGIS):c.1484G>A (p.Arg495His) | not specified [RCV004846730] | uncertain significance | 20 | 49507939 | 49507939 | Human | | name |
| 597751794 | CV3588759 | single nucleotide variant | NM_000961.4(PTGIS):c.1165C>G (p.Leu389Val) | not specified [RCV004846733] | uncertain significance | 20 | 49513121 | 49513121 | Human | | name |
| 597751816 | CV3588764 | single nucleotide variant | NM_000961.4(PTGIS):c.1136G>C (p.Arg379Pro) | not specified [RCV004846738] | uncertain significance | 20 | 49513150 | 49513150 | Human | | name |
| 598172734 | CV3904673 | single nucleotide variant | NM_000961.4(PTGIS):c.1064C>T (p.Pro355Leu) | not specified [RCV005263588] | uncertain significance | 20 | 49513222 | 49513222 | Human | | name |
| 15154633 | CV717033 | single nucleotide variant | NM_000961.4(PTGIS):c.1378G>A (p.Val460Met) | not provided [RCV000968773] | likely benign | 20 | 49508045 | 49508045 | Human | | name |
| 8637360 | CV92586 | single nucleotide variant | NM_000961.3(PTGIS):c.1420C>T (p.Pro474Ser) | Malignant melanoma [RCV000072684] | not provided | 20 | 49508003 | 49508003 | Human | | name |
| 8637361 | CV92587 | single nucleotide variant | NM_000961.3(PTGIS):c.1307C>T (p.Ala436Val) | Malignant melanoma [RCV000072685] | not provided | 20 | 49511079 | 49511079 | Human | | name |
| 8637362 | CV92588 | single nucleotide variant | NM_000961.3(PTGIS):c.1078G>A (p.Glu360Lys) | Malignant melanoma [RCV000072686] | not provided | 20 | 49513208 | 49513208 | Human | | name |