Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-148415624-C-T c.-338C>T 5_prime_UTR_premature_start_codon_gain AGTR1 1 2494 4.00962E-4 1247 0 NA
3-148457637-C-G c.-154C>G 5_prime_UTR_premature_start_codon_gain AGTR1 1 28418 3.5189E-5 14209 0 3.18451E-5
3-148457720-C-G c.-71C>G 5_prime_UTR_premature_start_codon_gain AGTR1 5 28410 1.75994E-4 14205 0 NA
3-148457741-T-A c.-50T>A splice_region AGTR1 2 28408 7.04027E-5 14204 0 NA
3-148457742-C-T c.-49C>T 5_prime_UTR_premature_start_codon_gain AGTR1 3 28408 1.05604E-4 14204 0 9.55171E-5
3-148457743-G-A c.-48G>A splice_region AGTR1 2 28408 7.04027E-5 14204 0 3.1839E-5
3-148458772-C-T c.-47-4C>T splice_region AGTR1 2 81342 2.45875E-5 40671 0 8.44238E-6
3-148458776-G-A c.-47G>A 5_prime_UTR_premature_start_codon_gain AGTR1 1 81642 1.22486E-5 40821 0 NA
3-148458806-C-T c.-17C>T 5_prime_UTR_premature_start_codon_gain AGTR1 27 82694 3.26505E-4 41347 1 1.66939E-4
3-148458826-A-G p.Ile2Val missense AGTR1 6 82934 7.23467E-5 41467 0 9.5511E-5
3-148458826-A-T p.Ile2Phe missense AGTR1 5 82934 6.02889E-5 41467 0 3.98556E-5
3-148458828-T-C p.Ile2Ile synonymous AGTR1 1 82936 1.20575E-5 41468 0 8.28597E-6
3-148458852-T-C p.Gly10Gly synonymous AGTR1 2 83058 2.40796E-5 41529 0 3.1837E-5
3-148458870-T-C p.Asp16Asp synonymous AGTR1 1 83104 1.20331E-5 41552 0 NA
3-148458873-T-G p.Asp17Glu missense AGTR1 1 83110 1.20322E-5 41555 0 7.96096E-6
3-148458906-T-G p.Phe28Leu missense AGTR1 2 83174 2.4046E-5 41587 0 NA
3-148458909-C-T p.Val29Val synonymous AGTR1 1 83184 1.20215E-5 41592 0 NA
3-148458927-C-T p.Tyr35Tyr synonymous AGTR1 1 83228 1.20152E-5 41614 0 NA
3-148458931-A-AT p.Ile38fs frameshift AGTR1 1 83228 1.20152E-5 41614 0 3.97836E-6
3-148458935-T-C p.Ile38Thr missense AGTR1 5 83230 6.00745E-5 41615 0 3.18573E-5
3-148458942-G-A p.Val40Val synonymous AGTR1 7 83234 8.41002E-5 41617 0 3.18512E-5
3-148458952-T-C p.Phe44Leu missense AGTR1 1 83246 1.20126E-5 41623 0 NA
3-148458960-C-G p.Asn46Lys missense AGTR1 8 83240 9.61076E-5 41620 0 NA
3-148458967-G-T p.Val49Leu missense AGTR1 1 83224 1.20158E-5 41612 0 8.24063E-6
3-148458977-T-G p.Val52Gly missense AGTR1 11 83210 1.32196E-4 41605 0 1.59236E-4
3-148458984-CT-C p.Tyr56fs frameshift AGTR1 1 83196 1.20198E-5 41598 0 1.64851E-5
3-148458985-T-C p.Phe55Leu missense AGTR1 1 83196 1.20198E-5 41598 0 NA
3-148458992-T-C p.Met57Thr missense AGTR1 4 83204 4.80746E-5 41602 0 2.47276E-5
3-148458997-C-T p.Leu59Leu synonymous AGTR1 1 83178 1.20224E-5 41589 0 NA
3-148459015-G-A p.Val65Ile missense AGTR1 45 83180 5.40995E-4 41590 0 0.00124283
3-148459015-G-C p.Val65Leu missense AGTR1 1 83180 1.20221E-5 41590 0 3.98061E-6
3-148459024-T-C p.Leu68Leu synonymous AGTR1 5 83182 6.01092E-5 41591 0 3.98153E-6
3-148459047-A-G p.Leu75Leu synonymous AGTR1 1 83138 1.20282E-5 41569 0 8.25914E-6
3-148459071-A-G p.Leu83Leu synonymous AGTR1 3 83104 3.60993E-5 41552 0 5.78541E-5
3-148459076-C-T p.Ala85Val missense AGTR1 1 83094 1.20346E-5 41547 0 NA
3-148459080-C-T p.Val86Val synonymous AGTR1 1 83080 1.20366E-5 41540 0 7.99073E-6
3-148459099-C-T p.Arg93Cys missense AGTR1 1 83040 1.20424E-5 41520 0 8.02285E-6
3-148459100-G-A p.Arg93His missense AGTR1 2 83024 2.40894E-5 41512 0 2.40881E-5
3-148459120-C-T p.Leu100Leu synonymous AGTR1 10 82968 1.20528E-4 41484 0 5.03525E-4
3-148459129-A-T p.Ile103Phe missense AGTR1 8 82922 9.64762E-5 41461 0 1.17443E-4
3-148459130-T-C p.Ile103Thr missense AGTR1 59 82928 7.11461E-4 41464 0 7.9801E-4
3-148459144-G-A p.Val108Ile missense AGTR1 1 82762 1.20828E-5 41381 0 2.49211E-5
3-148459157-T-G p.Leu112Arg missense AGTR1 2 82676 2.41908E-5 41338 0 8.31615E-6
3-148459158-G-GT p.Tyr113fs frameshift AGTR1 1 82652 1.20989E-5 41326 0 3.18471E-5
3-148459161-C-T p.Tyr113Tyr synonymous AGTR1 6 82592 7.26463E-5 41296 0 2.49559E-5
3-148459162-G-A p.Ala114Thr missense AGTR1 3 82550 3.63416E-5 41275 0 1.27421E-4
3-148459164-T-G p.Ala114Ala synonymous AGTR1 1 82544 1.21148E-5 41272 0 3.1841E-5
3-148459166-G-C p.Ser115Thr missense AGTR1 6 82542 7.26903E-5 41271 0 5.03525E-4
3-148459178-T-C p.Leu119Pro missense AGTR1 1 82408 1.21347E-5 41204 0 NA
3-148459179-C-T p.Leu119Leu synonymous AGTR1 2 82372 2.42801E-5 41186 0 6.66067E-5
3-148459181-C-T p.Thr120Met missense AGTR1 1 82352 1.2143E-5 41176 0 0.00100705
3-148459182-G-A p.Thr120Thr synonymous AGTR1 6 82332 7.28757E-5 41166 0 5.32394E-5
3-148459195-G-T p.Asp125Tyr missense AGTR1 1 82180 1.21684E-5 41090 0 NA
3-148459199-G-A p.Arg126Gln missense AGTR1 2 82070 2.43694E-5 41035 0 1.27372E-4
3-148459206-G-A p.Leu128Leu synonymous AGTR1 2 82062 2.43718E-5 41031 0 3.1837E-5
3-148459219-C-G p.Pro133Ala missense AGTR1 1 82010 1.21936E-5 41005 0 NA
3-148459221-A-G p.Pro133Pro synonymous AGTR1 1 82042 1.21889E-5 41021 0 NA
3-148459222-A-G p.Met134Val missense AGTR1 5 82044 6.09429E-5 41022 0 5.03525E-4
3-148459231-C-T p.Arg137Cys missense AGTR1 1 82020 1.21921E-5 41010 0 1.21561E-5
3-148459237-C-T p.Arg139* stop_gained AGTR1 1 82014 1.2193E-5 41007 0 NA
3-148459238-G-A p.Arg139Gln missense AGTR1 3 81970 3.65988E-5 40985 0 0.001875
3-148459240-C-T p.Arg140Cys missense AGTR1 2 82020 2.43843E-5 41010 0 5.8213E-5
3-148459251-T-G p.Leu143Leu synonymous AGTR1 1 82058 1.21865E-5 41029 0 6.36943E-5
3-148459258-A-G p.Lys146Glu missense AGTR1 1 82066 1.21853E-5 41033 0 NA
3-148459270-A-G p.Ile150Val missense AGTR1 1 82174 1.21693E-5 41087 0 NA
3-148459271-T-G p.Ile150Ser missense AGTR1 1 82168 1.21702E-5 41084 0 NA
3-148459292-G-C p.Gly157Ala missense AGTR1 1 82354 1.21427E-5 41177 0 1.5965E-5
3-148459309-G-A p.Ala163Thr missense AGTR1 14 82572 1.69549E-4 41286 0 6.68769E-4
3-148459322-G-A p.Arg167Gln missense AGTR1 2 82726 2.41762E-5 41363 0 1.27429E-4
3-148459329-A-G p.Val169Val synonymous AGTR1 1 82816 1.2075E-5 41408 0 3.98327E-6
3-148459333-T-A p.Phe171Ile missense AGTR1 1 82870 1.20671E-5 41435 0 NA
3-148459337-T-C p.Ile172Thr missense AGTR1 1 82884 1.20651E-5 41442 0 1.64995E-5
3-148459347-C-T p.Thr175Thr synonymous AGTR1 2 82926 2.41179E-5 41463 0 3.18471E-5
3-148459349-A-G p.Asn176Ser missense AGTR1 1 82936 1.20575E-5 41468 0 3.18552E-5
3-148459353-TAC-T p.Thr178fs frameshift AGTR1 1 82962 1.20537E-5 41481 0 NA
3-148459371-T-C p.His183His synonymous AGTR1 2 82974 2.41039E-5 41487 0 6.36943E-5
3-148459384-A-G p.Asn188Asp missense AGTR1 3 82964 3.61603E-5 41482 0 1.19676E-5
3-148459395-C-T p.Leu191Leu synonymous AGTR1 35393 82620 0.428383 41310 7976 0.490325
3-148459398-G-A p.Pro192Pro synonymous AGTR1 3 82868 3.62022E-5 41434 0 6.25E-4
3-148459409-G-T p.Gly196Val missense AGTR1 1 82784 1.20796E-5 41392 0 4.00134E-6
3-148459425-A-G p.Ile201Met missense AGTR1 1 82674 1.20957E-5 41337 0 NA
3-148459431-T-C p.Gly203Gly synonymous AGTR1 3 82620 3.63108E-5 41310 0 6.25E-4
3-148459435-C-A p.Leu205Met missense AGTR1 1 82606 1.21057E-5 41303 0 NA
3-148459436-T-C p.Leu205Pro missense AGTR1 1 82610 1.21051E-5 41305 0 4.00647E-6
3-148459437-G-A p.Leu205Leu synonymous AGTR1 1 82594 1.21074E-5 41297 0 NA
3-148459444-T-C p.Phe208Leu missense AGTR1 1 82528 1.21171E-5 41264 0 3.32154E-5
3-148459469-C-T p.Thr216Ile missense AGTR1 1 82558 1.21127E-5 41279 0 1.20131E-5
3-148459509-G-A p.Gln229Gln synonymous AGTR1 1 82912 1.2061E-5 41456 0 7.99194E-6
3-148459513-A-G p.Asn231Asp missense AGTR1 1 82936 1.20575E-5 41468 0 NA
3-148459519-C-A p.Pro233Thr missense AGTR1 6 82946 7.23362E-5 41473 0 0.00100705
3-148459528-G-C p.Asp236His missense AGTR1 2 82976 2.41034E-5 41488 0 2.49385E-5
3-148459533-T-A p.Asp237Glu missense AGTR1 8 83018 9.63646E-5 41509 0 3.18492E-5
3-148459533-T-C p.Asp237Asp synonymous AGTR1 1 83018 1.20456E-5 41509 0 NA
3-148459552-G-T p.Ala244Ser missense AGTR1 367 83008 0.00442126 41504 3 0.00654582
3-148459555-A-G p.Ile245Val missense AGTR1 5 83016 6.02294E-5 41508 0 1.59256E-4
3-148459564-T-C p.Phe248Leu missense AGTR1 1 83040 1.20424E-5 41520 0 4.98322E-5
3-148459588-C-A p.His256Asn missense AGTR1 1 83052 1.20406E-5 41526 0 3.18634E-5
3-148459607-T-A p.Leu262Gln missense AGTR1 2 83094 2.40691E-5 41547 0 NA
3-148459615-T-C p.Leu265Leu synonymous AGTR1 1 83126 1.20299E-5 41563 0 3.98375E-6
3-148459627-G-A p.Gly269Ser missense AGTR1 2 83162 2.40494E-5 41581 0 1.99157E-5
3-148459636-C-T p.Arg272Cys missense AGTR1 18 83176 2.16409E-4 41588 0 2.47541E-5
3-148459640-A-G p.Asp273Gly missense AGTR1 1 83198 1.20195E-5 41599 0 NA
3-148459644-T-C p.Cys274Cys synonymous AGTR1 3 83194 3.60603E-5 41597 0 1.65006E-5
3-148459650-T-G p.Ile276Met missense AGTR1 1 83198 1.20195E-5 41599 0 NA
3-148459652-C-T p.Ala277Val missense AGTR1 1 83202 1.20189E-5 41601 0 NA
3-148459668-G-A p.Thr282Thr synonymous AGTR1 3 83232 3.60438E-5 41616 0 8.24946E-6
3-148459683-C-T p.Thr287Thr synonymous AGTR1 1 83242 1.20132E-5 41621 0 NA
3-148459690-A-G p.Ile290Val missense AGTR1 1 83238 1.20137E-5 41619 0 3.18329E-5
3-148459700-T-G p.Phe293Cys missense AGTR1 2 83232 2.40292E-5 41616 0 8.25178E-6
3-148459715-A-G p.Asn298Ser missense AGTR1 45 83232 5.40657E-4 41616 0 5.03525E-4
3-148459724-T-C p.Phe301Ser missense AGTR1 1 83220 1.20163E-5 41610 0 NA
3-148459750-A-T p.Lys310* stop_gained AGTR1 1 83140 1.20279E-5 41570 0 NA
3-148459754-G-T p.Arg311Ile missense AGTR1 1 83128 1.20296E-5 41564 0 NA
3-148459763-T-G p.Leu314Arg missense AGTR1 3 83102 3.61002E-5 41551 0 9.55597E-5
3-148459764-C-T p.Leu314Leu synonymous AGTR1 9 83108 1.08293E-4 41554 0 4.39543E-5
3-148459764-C-G p.Leu314Leu synonymous AGTR1 1 83108 1.20325E-5 41554 0 4.15331E-5
3-148459766-A-C p.Gln315Pro missense AGTR1 3 83088 3.61063E-5 41544 0 8.30551E-6
3-148459776-A-C p.Lys318Asn missense AGTR1 3 83040 3.61272E-5 41520 0 3.1837E-5
3-148459796-A-G p.Lys325Arg missense AGTR1 4 82906 4.82474E-5 41453 0 1.91095E-4
3-148459815-A-G p.Ser331Ser synonymous AGTR1 1 82722 1.20887E-5 41361 0 NA
3-148459819-A-G p.Lys333Glu missense AGTR1 1 82690 1.20934E-5 41345 0 NA
3-148459830-G-A p.Thr336Thr synonymous AGTR1 37 82596 4.47964E-4 41298 0 0.0020141
3-148459839-C-T p.Tyr339Tyr synonymous AGTR1 11 82622 1.33136E-4 41311 0 3.18492E-4
3-148459840-C-T p.Arg340Cys missense AGTR1 1 82616 1.21042E-5 41308 0 1.60235E-5
3-148459841-G-A p.Arg340His missense AGTR1 4 82550 4.84555E-5 41275 0 6.25E-4
3-148459841-G-T p.Arg340Leu missense AGTR1 1 82552 1.21136E-5 41276 0 NA
3-148459854-T-C p.Asn344Asn synonymous AGTR1 2 82700 2.41838E-5 41350 0 4.00327E-6
3-148459862-C-T p.Ser347Leu missense AGTR1 1 82732 1.20872E-5 41366 0 NA
3-148459868-C-T p.Thr349Ile missense AGTR1 2 82760 2.41663E-5 41380 0 9.94382E-5
3-148459874-A-T p.Lys351Met missense AGTR1 1 82794 1.20782E-5 41397 0 8.28542E-6
3-148459883-CA-TG p.Pro354Leu missense AGTR1 2 82828 2.41464E-5 41414 0 NA
3-148459884-A-G p.Pro354Pro synonymous AGTR1 6680 82774 0.0807017 41387 504 0.116716
3-148459888-T-G p.Phe356Val missense AGTR1 2 82874 2.4133E-5 41437 0 3.31362E-5
3-148459888-T-C p.Phe356Leu missense AGTR1 1 82874 1.20665E-5 41437 0 NA
3-148459893-G-C p.Glu357Asp missense AGTR1 1 82908 1.20616E-5 41454 0 NA
3-148459902-A-G p.Ter360Trpext*? stop_lost AGTR1 1 82922 1.20595E-5 41461 0 5.03525E-4
3-148460032-C-T c.*130C>T splice_region AGTR1 1 80022 1.24966E-5 40011 0 1.03656E-4
3-148460788-C-T c.*886C>T splice_region AGTR1 1 42950 2.32829E-5 21475 0 NA