Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100197789-T-G p.Met374Leu missense ADH1A 1 82850 1.207E-5 41425 0 8.25001E-6
4-100197800-C-T p.Arg370His missense ADH1A 3 82788 3.62371E-5 41394 0 9.89936E-5
4-100197801-G-A p.Arg370Cys missense ADH1A 2 82780 2.41604E-5 41390 0 9.95611E-5
4-100197811-A-G c.1104-6T>C splice_region ADH1A 1 82722 1.20887E-5 41361 0 1.65033E-5
4-100200586-T-C p.Lys367Arg missense ADH1A 1 83142 1.20276E-5 41571 0 8.31656E-6
4-100200594-G-A p.His364His synonymous ADH1A 1 83166 1.20241E-5 41583 0 NA
4-100200595-T-C p.His364Arg missense ADH1A 3 83174 3.6069E-5 41587 0 8.28693E-6
4-100200600-C-T p.Leu362Leu synonymous ADH1A 2 83170 2.40471E-5 41585 0 3.31137E-5
4-100200609-T-C p.Gly359Gly synonymous ADH1A 1 83188 1.2021E-5 41594 0 NA
4-100200632-G-A p.Pro352Ser missense ADH1A 1 83200 1.20192E-5 41600 0 2.47717E-5
4-100200640-T-C p.His349Arg missense ADH1A 1 83208 1.20181E-5 41604 0 NA
4-100200642-G-A p.Thr348Thr synonymous ADH1A 2 83212 2.4035E-5 41606 0 NA
4-100200649-A-G p.Leu346Ser missense ADH1A 2 83206 2.40367E-5 41603 0 NA
4-100200676-A-G p.Met337Thr missense ADH1A 1 83164 1.20244E-5 41582 0 8.05153E-5
4-100200677-T-C p.Met337Val missense ADH1A 2 83154 2.40518E-5 41577 0 NA
4-100200687-C-G p.Val333Val synonymous ADH1A 2 83130 2.40587E-5 41565 0 NA
4-100200704-A-T p.Cys328Ser missense ADH1A 1 83126 1.20299E-5 41563 0 NA
4-100200712-C-A p.Ser325Ile missense ADH1A 2 83124 2.40604E-5 41562 0 8.24729E-6
4-100200712-CT-C p.Ser325fs frameshift ADH1A 2 83124 2.40604E-5 41562 0 3.29891E-5
4-100200729-G-C c.965-8C>G splice_region ADH1A 1 83062 1.20392E-5 41531 0 3.18613E-5
4-100201293-C-A c.964+8G>T splice_region ADH1A 1 83310 1.20034E-5 41655 0 NA
4-100201294-T-C c.964+7A>G splice_region ADH1A 1 83314 1.20028E-5 41657 0 NA
4-100201295-A-G c.964+6T>C splice_region ADH1A 783 83306 0.00939908 41653 5 0.00869427
4-100201302-A-G p.Gly321Gly splice_region+synonymous ADH1A 1 83320 1.20019E-5 41660 0 NA
4-100201328-G-A p.Arg313Cys missense ADH1A 3 83340 3.59971E-5 41670 0 6.37349E-5
4-100201348-G-A p.Pro306Leu missense ADH1A 1 83344 1.19985E-5 41672 0 NA
4-100201353-C-T p.Met304Ile missense ADH1A 1 83346 1.19982E-5 41673 0 8.23669E-6
4-100201365-T-C p.Gln300Gln synonymous ADH1A 125 83346 0.00149977 41673 0 0.00264483
4-100201384-C-T p.Gly294Glu missense ADH1A 15 83334 1.79999E-4 41667 0 9.56267E-5
4-100201384-C-A p.Gly294Val missense ADH1A 1 83334 1.19999E-5 41667 0 NA
4-100201385-C-A p.Gly294Trp missense ADH1A 7 83334 8.39993E-5 41667 0 9.24332E-4
4-100201388-C-T p.Val293Ile missense ADH1A 2 83334 2.39998E-5 41667 0 2.142E-4
4-100201403-CA-C p.Cys287fs frameshift ADH1A 1 83318 1.20022E-5 41659 0 NA
4-100201404-A-G p.Cys287Cys synonymous ADH1A 1 83314 1.20028E-5 41657 0 6.37227E-5
4-100201406-A-G p.Cys287Arg missense ADH1A 1 83312 1.20031E-5 41656 0 3.18512E-5
4-100203499-A-C c.828+4T>G splice_region ADH1A 1 83368 1.1995E-5 41684 0 7.95874E-6
4-100203514-G-A p.Leu273Phe missense ADH1A 1 83364 1.19956E-5 41682 0 3.97848E-6
4-100203516-C-T p.Arg272Gln missense ADH1A 2 83346 2.39964E-5 41673 0 1.98959E-5
4-100203517-G-A p.Arg272Trp missense ADH1A 1 83338 1.19993E-5 41669 0 1.27429E-4
4-100203518-A-G p.Gly271Gly synonymous ADH1A 3 83342 3.59963E-5 41671 0 3.97826E-6
4-100203519-C-T p.Gly271Asp missense ADH1A 2 83342 2.39975E-5 41671 0 8.23669E-6
4-100203520-C-T p.Gly271Ser missense ADH1A 2 83346 2.39964E-5 41673 0 4.94193E-5
4-100203521-G-C p.Ile270Met missense ADH1A 1 83340 1.1999E-5 41670 0 NA
4-100203521-G-A p.Ile270Ile synonymous ADH1A 1 83340 1.1999E-5 41670 0 1.9891E-5
4-100203533-T-C p.Ser266Ser synonymous ADH1A 1 83320 1.20019E-5 41660 0 9.06036E-5
4-100203533-T-G p.Ser266Ser synonymous ADH1A 1 83320 1.20019E-5 41660 0 8.23669E-6
4-100203535-A-T p.Ser266Thr missense ADH1A 21 83308 2.52077E-4 41654 0 4.45775E-4
4-100203547-C-T p.Gly262Ser missense ADH1A 3 83268 3.60282E-5 41634 0 2.47093E-5
4-100203551-A-G p.Asp260Asp synonymous ADH1A 1 83258 1.20109E-5 41629 0 3.97697E-6
4-100203554-A-G p.Thr259Thr synonymous ADH1A 2 83248 2.40246E-5 41624 0 1.59076E-5
4-100203603-T-C p.Asn243Ser missense ADH1A 1 83096 1.20343E-5 41548 0 NA
4-100203606-A-G p.Ile242Thr missense ADH1A 1 83082 1.20363E-5 41541 0 3.18634E-5
4-100203607-T-C p.Ile242Val missense ADH1A 14 83082 1.68508E-4 41541 0 NA
4-100203610-A-G p.Cys241Arg missense ADH1A 2 83126 2.40599E-5 41563 0 NA
4-100203621-C-T p.Gly237Asp missense ADH1A 4 83106 4.81313E-5 41553 0 1.40019E-4
4-100203626-C-G p.Glu235Asp missense ADH1A 3 83124 3.60907E-5 41562 0 1.64728E-5
4-100203627-T-G p.Glu235Ala missense ADH1A 1 83136 1.20285E-5 41568 0 NA
4-100203635-CT-C p.Lys232fs frameshift ADH1A 3 83168 3.60716E-5 41584 0 3.57861E-5
4-100203655-T-G p.Asn226His missense ADH1A 1 83260 1.20106E-5 41630 0 NA
4-100203659-G-A p.Asp224Asp synonymous ADH1A 1 83262 1.20103E-5 41631 0 3.18552E-5
4-100203662-C-T p.Val223Val synonymous ADH1A 3 83284 3.60213E-5 41642 0 5.03525E-4
4-100203664-C-T p.Val223Met missense ADH1A 5 83298 6.00254E-5 41649 0 3.29462E-5
4-100203665-C-T p.Ala222Ala synonymous ADH1A 82 83298 9.84417E-4 41649 0 0.0019749
4-100203666-G-A p.Ala222Val missense ADH1A 2 83310 2.40067E-5 41655 0 1.59057E-5
4-100203671-G-A p.Ile220Ile synonymous ADH1A 1 83342 1.19988E-5 41671 0 NA
4-100203677-G-A p.Ala218Ala synonymous ADH1A 2 83354 2.3994E-5 41677 0 8.23642E-6
4-100203698-G-A p.Gly211Gly synonymous ADH1A 2 83380 2.39866E-5 41690 0 3.1839E-5
4-100203702-A-C p.Met210Arg missense ADH1A 1 83382 1.1993E-5 41691 0 8.23669E-6
4-100203705-A-G p.Ile209Thr missense ADH1A 1 83380 1.19933E-5 41690 0 1.59067E-5
4-100203706-T-C p.Ile209Val missense ADH1A 1 83376 1.19939E-5 41688 0 3.18532E-5
4-100203713-T-G p.Leu206Leu synonymous ADH1A 1 83384 1.19927E-5 41692 0 3.97687E-6
4-100203718-C-T p.Gly205Ser missense ADH1A 1 83382 1.1993E-5 41691 0 8.24171E-6
4-100203722-C-G p.Gly203Gly synonymous ADH1A 1 83384 1.19927E-5 41692 0 8.24334E-6
4-100203735-A-G p.Phe199Ser missense ADH1A 16 83362 1.91934E-4 41681 0 1.2738E-4
4-100203743-A-G p.Cys196Cys synonymous ADH1A 1 83360 1.19962E-5 41680 0 3.9801E-6
4-100203744-C-G p.Cys196Ser missense ADH1A 1 83360 1.19962E-5 41680 0 3.98197E-6
4-100203746-G-A p.Thr195Thr synonymous ADH1A 1 83352 1.19973E-5 41676 0 NA
4-100203749-A-G p.Ser194Ser synonymous ADH1A 3 83346 3.59945E-5 41673 0 2.48094E-5
4-100203753-C-T p.Gly193Asp missense ADH1A 1 83338 1.19993E-5 41669 0 4.02826E-6
4-100203761-G-A p.Val190Val splice_region+synonymous ADH1A 1 83306 1.20039E-5 41653 0 8.30758E-6
4-100205548-A-G c.567+8T>C splice_region ADH1A 3 83188 3.60629E-5 41594 0 4.9425E-5
4-100205548-AT-A c.567+7delA splice_region ADH1A 1 83188 1.2021E-5 41594 0 NA
4-100205562-A-C p.Val187Val synonymous ADH1A 2 83240 2.40269E-5 41620 0 3.97716E-6
4-100205563-A-G p.Val187Ala missense ADH1A 1 83248 1.20123E-5 41624 0 NA
4-100205570-C-G p.Val185Leu missense ADH1A 1 83260 1.20106E-5 41630 0 1.19308E-5
4-100205570-CT-C p.Val185fs frameshift ADH1A 1 83260 1.20106E-5 41630 0 8.23655E-6
4-100205581-T-C p.Tyr181Cys missense ADH1A 1 83264 1.201E-5 41632 0 NA
4-100205594-A-C p.Phe177Val missense ADH1A 1 83292 1.2006E-5 41646 0 NA
4-100205603-C-G p.Gly174Arg missense ADH1A 3 83296 3.60161E-5 41648 0 6.3674E-5
4-100205606-T-C p.Ile173Val missense ADH1A 2 83304 2.40085E-5 41652 0 3.29457E-5
4-100205610-A-T p.Cys171* stop_gained ADH1A 1 83298 1.20051E-5 41649 0 NA
4-100205628-C-T p.Ser165Ser synonymous ADH1A 5 83312 6.00154E-5 41656 0 6.25E-4
4-100205641-A-G p.Ile161Thr missense ADH1A 4 83324 4.80054E-5 41662 0 1.27364E-4
4-100205649-T-G p.Val158Val synonymous ADH1A 3 83322 3.60049E-5 41661 0 6.36821E-5
4-100205650-A-G p.Val158Ala missense ADH1A 1 83322 1.20016E-5 41661 0 3.97671E-6
4-100205655-A-G p.Asn156Asn synonymous ADH1A 3 83316 3.60075E-5 41658 0 8.23723E-6
4-100205667-C-T p.Val152Val synonymous ADH1A 2 83316 2.4005E-5 41658 0 NA
4-100205673-G-A p.Tyr150Tyr synonymous ADH1A 3 83314 3.60084E-5 41657 0 2.78379E-5
4-100205685-G-A n.480C>T splice_region ADH1A 1 83304 1.20042E-5 41652 0 NA
4-100205714-G-C p.Pro137Ala missense ADH1A 1 83288 1.20065E-5 41644 0 NA
4-100205736-G-A p.Ser129Ser synonymous ADH1A 3 83294 3.6017E-5 41647 0 3.18471E-5
4-100205737-C-A p.Ser129Ile missense ADH1A 3 83294 3.6017E-5 41647 0 NA
4-100205747-C-T p.Asp126Asn missense ADH1A 1 83302 1.20045E-5 41651 0 3.18471E-5
4-100205751-C-T p.Leu124Leu synonymous ADH1A 1 83294 1.20057E-5 41647 0 3.18431E-5
4-100205754-G-C p.Thr123Thr synonymous ADH1A 1 83292 1.2006E-5 41646 0 NA
4-100205755-G-T p.Thr123Asn missense ADH1A 7 83298 8.40356E-5 41649 0 2.22916E-4
4-100205761-T-G p.Gln121Pro missense ADH1A 3 83304 3.60127E-5 41652 0 5.03525E-4
4-100205765-G-T p.Pro120Thr missense ADH1A 1 83308 1.20036E-5 41654 0 3.97788E-6
4-100205771-T-A p.Ser118Cys missense ADH1A 1 83296 1.20054E-5 41648 0 7.95583E-6
4-100205827-AAT-GAG n.479+1_479+3delATTinsCTC splice_donor ADH1A 1 83326 1.20011E-5 41663 0 NA
4-100205829-T-G n.479+1A>C splice_donor ADH1A 27589 83054 0.332181 41527 5115 0.28537
4-100205831-T-C n.478A>G splice_region ADH1A 1 83330 1.20005E-5 41665 0 8.23778E-6
4-100205868-C-A c.347+5G>T splice_region ADH1A 1 83344 1.19985E-5 41672 0 NA
4-100205872-C-G c.347+1G>C splice_donor ADH1A 60 83340 7.19942E-4 41670 0 4.69553E-4
4-100205875-G-A p.Asn115Asn splice_region+synonymous ADH1A 2 83338 2.39987E-5 41669 0 3.97662E-6
4-100205881-C-A p.Leu113Phe missense ADH1A 1 83348 1.19979E-5 41674 0 NA
4-100205885-C-T p.Cys112Tyr missense ADH1A 1 83348 1.19979E-5 41674 0 1.19298E-4
4-100205887-G-A p.Tyr111Tyr synonymous ADH1A 134 83350 0.00160768 41675 0 0.00704935
4-100205899-C-T p.Pro107Pro synonymous ADH1A 2 83348 2.39958E-5 41674 0 5.03525E-4
4-100205918-C-A p.Cys101Phe missense ADH1A 1 83326 1.20011E-5 41663 0 NA
4-100205918-C-T p.Cys101Tyr missense ADH1A 1 83326 1.20011E-5 41663 0 3.97655E-6
4-100205919-A-T p.Cys101Ser missense ADH1A 1 83328 1.20008E-5 41664 0 NA
4-100205939-G-A p.Ala94Val missense ADH1A 2 83296 2.40108E-5 41648 0 3.1837E-5
4-100205940-C-T p.Ala94Thr missense ADH1A 1 83294 1.20057E-5 41647 0 1.19316E-5
4-100205940-C-G p.Ala94Pro missense ADH1A 1 83294 1.20057E-5 41647 0 NA
4-100205941-G-A p.Leu93Leu synonymous ADH1A 5 83292 6.00298E-5 41646 0 3.97716E-5
4-100205942-A-C p.Leu93Arg missense ADH1A 1 83290 1.20062E-5 41645 0 NA
4-100205952-C-T p.Val90Ile missense ADH1A 1 83276 1.20083E-5 41638 0 NA
4-100205953-T-C p.Lys89Lys synonymous ADH1A 1 83276 1.20083E-5 41638 0 NA
4-100205957-T-C p.Asp88Gly missense ADH1A 2 83268 2.40188E-5 41634 0 NA
4-100207824-C-A n.511G>T splice_region ADH1A 1 70742 1.41359E-5 35371 0 NA
4-100208007-C-T p.Gly87Ser missense+splice_region ADH1A 1 83364 1.19956E-5 41682 0 NA
4-100208018-G-A p.Thr83Ile missense ADH1A 1 83376 1.19939E-5 41688 0 NA
4-100208021-G-A p.Thr82Ile missense ADH1A 2 83376 2.39877E-5 41688 0 6.37552E-5
4-100208026-C-G p.Gly80Gly synonymous ADH1A 1 83374 1.19941E-5 41687 0 NA
4-100208030-T-A p.Glu79Val missense ADH1A 1 83380 1.19933E-5 41690 0 8.24633E-6
4-100208037-C-T p.Val77Ile missense ADH1A 1 83376 1.19939E-5 41688 0 3.97697E-6
4-100208039-C-T p.Ser76Asn missense ADH1A 4 83376 4.79754E-5 41688 0 5.17018E-5
4-100208046-C-T p.Val74Met missense ADH1A 6 83374 7.19649E-5 41687 0 2.86624E-4
4-100208047-G-A p.Ile73Ile synonymous ADH1A 5 83376 5.99693E-5 41688 0 8.35149E-5
4-100208048-A-C p.Ile73Ser missense ADH1A 4 83380 4.79731E-5 41690 0 3.97674E-6
4-100208052-C-T p.Gly72Ser missense ADH1A 2 83386 2.39848E-5 41693 0 1.27453E-4
4-100208053-G-A p.Ala71Ala synonymous ADH1A 3 83382 3.5979E-5 41691 0 6.37064E-5
4-100208061-C-T p.Glu69Lys missense ADH1A 2 83388 2.39843E-5 41694 0 NA
4-100208096-G-T p.Thr57Asn missense ADH1A 1 83364 1.19956E-5 41682 0 8.23859E-6
4-100208101-A-G p.Ser55Ser synonymous ADH1A 1 83362 1.19959E-5 41681 0 NA
4-100208109-C-T p.Val53Met missense ADH1A 1 83360 1.19962E-5 41680 0 NA
4-100208116-A-T p.Asp50Glu missense ADH1A 2 83354 2.3994E-5 41677 0 5.03525E-4
4-100208148-A-G c.121-3T>C splice_region ADH1A 41 83246 4.92516E-4 41623 0 7.9628E-4
4-100208152-A-G c.121-7T>C splice_region ADH1A 1 83216 1.20169E-5 41608 0 NA
4-100208728-C-A p.Arg38Leu missense ADH1A 3 83206 3.60551E-5 41603 0 3.18857E-5
4-100208728-C-T p.Arg38His missense ADH1A 1 83206 1.20184E-5 41603 0 6.37714E-5
4-100208732-C-T p.Val37Ile missense ADH1A 4 83218 4.80665E-5 41609 0 2.78858E-5
4-100208734-T-G p.Glu36Ala missense ADH1A 1 83232 1.20146E-5 41616 0 NA
4-100208736-A-T p.His35Gln missense ADH1A 3 83236 3.60421E-5 41618 0 3.18471E-5
4-100208755-A-G p.Val29Ala missense ADH1A 7 83274 8.40599E-5 41637 0 3.18756E-5
4-100208760-C-CA p.Glu28fs frameshift ADH1A 2 83274 2.40171E-5 41637 0 3.18674E-5
4-100208760-CACCTCCTCAATGGAAAAGGGTTTCTTTA-C p.Leu18fs frameshift ADH1A 1 83274 1.20085E-5 41637 0 8.24334E-6
4-100208761-A-G p.Val27Ala missense ADH1A 1 83270 1.20091E-5 41635 0 8.24294E-6
4-100208780-G-T p.Pro21Thr missense ADH1A 1 83282 1.20074E-5 41641 0 3.97716E-6
4-100208792-C-A p.Glu17* stop_gained ADH1A 1 83286 1.20068E-5 41643 0 8.23954E-6
4-100208814-T-G p.Lys9Asn missense ADH1A 1 83294 1.20057E-5 41647 0 3.18532E-5
4-100208824-T-C c.19-2A>G splice_acceptor ADH1A 1 83284 1.20071E-5 41642 0 NA
4-100212053-C-T c.18+1G>A splice_donor ADH1A 2 83182 2.40437E-5 41591 0 0.00125
4-100212069-C-T p.Met1? start_lost ADH1A 5 83206 6.00918E-5 41603 0 6.37024E-5
4-100212071-T-G p.Met1? initiator_codon ADH1A 1 83200 1.20192E-5 41600 0 NA