ALMS1

Basic Information
Gene SymbolALMS1
Entrez Id7840
Positionchr2:73612886..73837047
DescriptionAlstrom syndrome protein 1
Gene typeprotein-coding
SNP Information

SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*
rs101692132:73787234C/GALMS1intron1.0001.063750.01291.614E-67
rs101697142:73808773T/GALMS1intron1.0000.939600.01291.34E-67
rs101707862:73812988T/CALMS1intron1.0001.061940.01272.354E-66
rs101708492:73747932A/GALMS1intron1.0001.060030.01284.888E-67
rs101735342:73813432T/CALMS1intron1.0001.064070.01291.456E-67
rs101751802:73673123T/CALMS1intron1.0001.061090.01273.204E-67
rs101786782:73762236A/GALMS1intron0.9960.939880.01301.831E-66
rs101791342:73637519A/GALMS1intron0.9980.934820.01302.125E-76
rs101815632:73796173T/GALMS1intron0.9871.064920.01311.614E-67
rs101838182:73714556A/GALMS1intron0.9970.939040.01301.21E-62b
rs101842682:73627044T/CALMS1intron0.9871.064920.01289.232E-77
rs101850802:73797507A/CALMS1intron1.0001.061730.01293.468E-66
rs101865012:73697844T/CALMS1intron1.0001.061730.01272.421E-67
rs101871922:73713500T/CALMS1intron0.9960.938760.01301.077E-67
rs101874162:73713741T/GALMS1intron0.9970.941670.01282.667E-67
rs101895742:73698518A/CALMS1intron1.0001.060460.01273.701E-67
rs101895782:73728609A/CALMS1intron1.0001.029530.01090.0078736
rs101900022:73794054T/CALMS1intron1.0001.034170.01100.0021646
rs101902192:73658331T/CALMS1intron1.0001.065240.01299.975E-75
rs101921252:73671229A/GALMS1intron0.9930.980790.01510.19877
rs101927082:73780541A/TALMS1intron0.9610.966380.05490.53317
rs101939722:73717656A/GALMS1missense1.0000.941760.01272.491E-66
rs101953572:73713029A/GALMS1intron0.9810.940450.01312.58E-67
rs101953582:73713030A/GALMS1intron0.9810.940540.01312.683E-66
rs101974092:73806414T/CALMS1intron1.0001.061310.01272.941E-66
rs101977552:73797623A/TALMS1intron1.0001.061730.01293.458E-66
rs101985492:73794404A/GALMS1intron1.0000.939510.01291.299E-67
rs101992242:73761446C/GALMS1intron0.9970.939510.01301.526E-66
rs102072202:73785046C/GALMS1intron1.0001.063750.01291.641E-65
rs102072642:73714097A/GALMS1intron0.9981.062050.01282.508E-65
rs102079702:73744875C/GALMS1intron0.9921.022550.01070.037787
rs104699662:73752368A/GALMS1intron0.9151.067480.01294.437E-77
rs104961902:73638823C/GALMS1intron0.9420.975310.01100.022586
rs104961912:73673798T/CALMS1intron1.0001.061200.01273.074E-66
rs104961922:73679866T/CALMS1missense0.9950.956670.01460.0023377
rs104961932:73773503A/GALMS1intron1.0001.061730.01272.544E-65
rs105193092:73672629T/CALMS1intron0.9960.984720.01940.42847
rs10521612:73828538A/GALMS1missense1.0000.967930.01090.0028826
rs10521622:73829372T/CALMS1coding-synon1.0001.060560.01273.766E-66
rs10839192:73713863C/GALMS1intron1.0001.031790.01090.0042497
rs10839212:73712642C/GALMS1intron0.9891.030970.01100.0054727
rs10839222:73704003T/CALMS1intron1.0001.031490.01090.0045156
rs10839232:73703374A/GALMS1intron1.0001.032000.01090.0039796
rs108653982:73741497T/GALMS1intron1.0001.031590.01090.0044646
rs10915682:73714648A/GALMS1intron0.9930.976770.01510.11865
rs1112569692:73777049A/GALMS1intron0.7151.008030.03900.83737
rs111264042:73796924A/TALMS1intron0.9661.062690.01324.191E-67
rs1113449772:73837240T/CALMS1near-gene-30.6971.006320.03610.86167
rs1115410222:73744846A/GALMS1intron0.8041.168130.03630.000018386
rs1118458222:73627310A/GALMS1intron0.9511.053270.01990.0091067
rs1120064972:73730530T/CALMS1intron0.9931.044460.01460.002956
rs1120343602:73677548A/GALMS1coding-synon0.9880.916220.02280.0001277
rs1122693982:73814218A/GALMS1intron0.9910.979810.01500.17477
rs1130540812:73629433A/GALMS1intron0.9881.094390.02290.000082527
rs1135995032:73790633A/TALMS1intron0.9921.019590.01500.19556
rs1144648022:73656239T/CALMS1intron0.8101.149010.04910.004687
rs1146549002:73801107A/GALMS1intron0.9620.976770.02510.3497
rs1155163732:73797559C/GALMS1intron0.8281.155690.04590.0016117
rs1155392182:73695156T/CALMS1intron0.9331.042890.02740.1256
rs1158174712:73653835A/GALMS1intron0.6370.925700.06440.23117
rs1159891482:73641844C/GALMS1intron0.7541.039460.04530.39315
rs1161010332:73815324A/GALMS1intron0.6401.010050.06620.88055
rs1163181062:73782415A/GALMS1intron0.6540.971810.03480.41096
rs116848582:73643627T/GALMS1intron0.9241.025520.02430.29967
rs116895882:73773691A/GALMS1intron1.0000.940070.01291.714E-65
rs118847762:73746923T/CALMS1coding-synon1.0001.062690.01292.573E-66
rs118938812:73824373A/TALMS1intron1.0001.062900.01292.251E-66
rs118997402:73631212A/GALMS1intron0.9941.069830.01312.365E-76
rs118999022:73631564A/GALMS1intron0.9991.069620.01302.164E-77
rs119012722:73720444A/GALMS1intron0.9750.943180.01285.262E-67
rs119039162:73815328A/GALMS1intron1.0001.061840.01272.477E-65
rs121047682:73674966T/CALMS1intron0.9880.918050.02280.00017916
rs12460922:73707995T/CALMS1intron0.8741.036030.01140.0018337
rs12460932:73707985T/CALMS1intron0.7080.993920.01400.66057
rs12460952:73706885A/GALMS1intron0.9921.019900.02260.38346
rs12461052:73694160T/GALMS1intron0.9940.977850.01510.13887
rs124658672:73612102T/CALMS1near-gene-50.9991.049280.01160.000031623a
rs124774962:73821335A/GALMS1intron0.6641.016640.04570.71826
rs127137822:73659734A/GALMS1intron0.9920.983240.02260.45337
rs127137832:73663481A/CALMS1intron0.9930.978930.01510.1585
rs129954332:73641326T/CALMS1intron0.9940.963970.01100.00087577
rs129964632:73655496T/CALMS1intron0.9911.032210.01100.0039836
rs130088602:73774019A/GALMS1intron0.9941.021430.01070.048016
rs133838712:73631779T/CALMS1intron0.9970.934450.01301.876E-77
rs133849522:73723959A/GALMS1intron1.0000.939410.01291.244E-66
rs133861242:73771695C/GALMS1intron1.0001.031590.01090.004326
rs133915522:73818936A/GALMS1intron1.0001.061840.01293.378E-66
rs133926912:73748980A/GALMS1intron1.0001.062260.01293.119E-67
rs133928722:73713072A/GALMS1intron0.9881.066630.01318.646E-76
rs133989562:73720258A/CALMS1intron1.0001.064390.01291.321E-66
rs133990872:73771386T/CALMS1intron0.9950.969670.01090.0049036
rs134009852:73733071A/GALMS1intron0.9920.938940.01291.048E-67
rs134096682:73753187T/CALMS1intron1.0001.059400.01286.228E-67
rs134214622:73719875A/CALMS1intron1.0000.939320.01291.257E-66
rs134282352:73633430A/GALMS1intron0.9991.069620.01302.208E-77
rs134312672:73782200A/GALMS1intron0.9850.940920.01302.693E-66
rs134326052:73810981C/GALMS1intron1.0000.939600.01291.319E-66
rs1386344442:73830974A/GALMS1intron0.8831.038000.03180.2408-
rs1389784072:73691775C/GALMS1intron0.9951.030870.01100.005841-
rs1390718162:73767129A/GALMS1intron0.8891.066410.05110.2081-
rs1394163522:73704126A/GALMS1intron0.7461.022550.05610.6912-
rs1402241672:73765906T/GALMS1intron0.8281.153730.04570.001747-
rs1408865612:73690300T/CALMS1intron0.9710.965030.02590.1681-
rs1417649842:73690491A/CALMS1intron0.9940.968410.01100.003362-
rs1422099242:73733673A/GALMS1intron0.9901.092970.02290.0001007-
rs1425752292:73666876T/CALMS1intron0.7421.061620.04350.1696-
rs1427101462:73622182A/GALMS1intron0.6090.921640.03060.007614-
rs1428003872:73693466A/GALMS1intron0.9681.029730.01100.007826-
rs1434345282:73690039T/CALMS1intron0.8200.982950.01440.2334-
rs1447886702:73691524C/GALMS1intron0.9690.938850.01301.322E-6-
rs1450170042:73690467A/CALMS1intron0.9980.968310.01090.003174-
rs1455713262:73652316A/TALMS1intron0.7950.946300.04360.2062-
rs1466529642:73758339A/CALMS1intron0.9680.952090.04820.3088-
rs1466727542:73765880A/GALMS1intron0.9120.979610.02280.3659-
rs1466988232:73771268A/TALMS1intron0.9901.015420.02270.502-
rs1473568582:73785885A/GALMS1intron0.8271.156270.04570.001493-
rs1485702072:73764968A/TALMS1intron0.8780.952660.05420.3711-
rs1495266162:73812090T/CALMS1intron0.9520.983050.02560.5041-
rs1498392932:73645998A/GALMS1intron0.8931.052430.05180.3236-
rs1500174882:73752613T/GALMS1intron0.6460.917690.06640.1957-
rs1501674562:73690820T/CALMS1intron0.6761.012070.01360.3777-
rs1505269132:73617984T/CALMS1intron0.6590.985310.03540.6755-
rs1510033862:73622184A/GALMS1intron0.6400.933420.02440.004821-
rs15281692:73669186T/CALMS1intron1.0001.032520.01090.0034466
rs15344712:73647508A/GALMS1intron0.9901.061940.01282.444E-67
rs15895762:73738804A/GALMS1intron0.9960.957720.01450.002946
rs170091492:73790368T/CALMS1intron1.0000.939880.01291.519E-66
rs170091592:73797762A/TALMS1intron1.0000.940160.01291.659E-67
rs173493212:73643753T/CALMS1intron0.9941.047390.01470.0016277
rs173496852:73744123A/GALMS1intron0.9351.025830.02530.31437
rs173498042:73783160A/TALMS1intron0.9891.021320.01500.15887
rs173498182:73792207A/GALMS1intron0.9270.942990.02560.021535
rs173498532:73831714T/GALMS1intron0.6890.964930.02390.13516
rs174340132:73659456T/CALMS1intron0.6951.049590.03300.14237
rs1816624202:73801634A/TALMS1intron0.9450.901320.02440.00002102-
rs1883400152:73712033C/GALMS1intron0.6161.074330.06770.29-
rs1889809102:73771070T/GALMS1intron0.6290.940920.06410.342-
rs1895515352:73688145T/CALMS1intron0.7701.037170.04030.3655-
rs1897560232:73672108A/GALMS1intron0.6520.960410.06020.5024-
rs1924885362:73772839A/GALMS1intron0.8891.066630.05110.2068-
rs1929851592:73832048T/CALMS1intron0.8760.972390.06490.6663-
rs1930951502:73768043A/GALMS1intron0.6490.907470.07510.1958-
rs20378142:73675669T/GALMS1missense0.9940.979710.01510.17517
rs20564862:73717567T/GALMS1missense1.0001.061840.01272.426E-67
rs20915022:73688092T/CALMS1intron0.8510.982060.02140.39917
rs20915032:73687865A/GALMS1intron0.9911.031490.01090.0044237
rs20915042:73687794T/GALMS1intron1.0000.968510.01090.0033536
rs21401952:73702344A/GALMS1intron1.0000.942710.01273.608E-67
rs21781542:73661738T/CALMS1intron1.0000.967540.01100.0026687
rs24215452:73639476T/CALMS1intron0.9971.037070.01100.00095486
rs24215462:73641077A/CALMS1intron0.9991.034900.01090.0017527
rs24215472:73641088T/GALMS1intron0.9740.986790.02240.55436
rs24215482:73641240A/GALMS1intron0.9981.036760.01100.0010237
rs24215492:73658573T/CALMS1intron0.9720.982460.02240.43047
rs24215502:73658686A/GALMS1intron0.9910.941580.01272.31E-67
rs24215522:73758803T/CALMS1intron0.9961.064390.01301.53E-67
rs24215552:73816955A/GALMS1intron1.0001.061200.01273E-66
rs24216672:73832459T/CALMS1intron1.0001.034480.01100.001976
rs24616912:73712962T/CALMS1intron0.9370.981570.01480.21116
rs285747332:73693626C/GALMS1intron0.7250.971810.01240.021366
rs287308542:73679956T/CALMS1missense0.8411.067270.03080.034767
rs288790892:73812886A/GALMS1intron0.9991.064600.01291.218E-67
rs29014382:73665656A/GALMS1intron1.0001.061520.01272.724E-67
rs29484412:73825770A/GALMS1intron0.9920.978930.01510.15766
rs29507702:73712951A/GALMS1intron0.9801.021630.01510.15586
rs340323382:73762385A/GALMS1intron0.8480.958100.02410.075316
rs341428132:73708783A/GALMS1intron0.7931.088610.01739.788E-77
rs350622032:73717921C/GALMS1missense0.9701.050850.04820.30327
rs352739322:73739848T/GALMS1intron0.9010.923490.05180.12417
rs358859182:73612234T/CALMS1near-gene-50.9990.953040.01160.000031523a
rs38132272:73651967T/CALMS1missense0.9911.059820.01274.851E-66
rs38207002:73716810A/GALMS1missense0.9940.978630.01510.15256
rs45009722:73767897A/GALMS1intron0.9371.060990.01360.000013856
rs455015942:73799632C/GALMS1missense0.9331.074230.05690.20827
rs456080382:73679013A/GALMS1missense0.6160.940350.06350.33334
rs48523052:73649733T/GALMS1intron0.9750.974920.01540.098517
rs48523062:73688784T/CALMS1intron0.9890.969570.01090.0046267
rs48523082:73834035T/GALMS1intron1.0001.033340.01090.0026766
rs48529272:73641557T/CALMS1intron0.9890.963680.01110.00082996
rs48529302:73688318C/GALMS1intron0.8360.971900.01150.013516
rs48529312:73688343A/GALMS1intron0.7730.977850.01400.10947
rs48529362:73831358T/CALMS1intron0.9871.018880.01500.21066
rs48529372:73834084T/CALMS1intron0.9901.021020.01480.16066
rs582429892:73696617A/GALMS1intron0.6111.072190.02430.0042017
rs586037612:73726605A/GALMS1intron1.0000.942610.01273.386E-67
rs608447342:73623205A/TALMS1intron0.9991.069400.01302.418E-77
rs613887802:73669235A/GALMS1intron0.8330.949140.02680.05176
rs621497742:73787652A/GALMS1intron0.9951.044670.01460.0027437
rs621497772:73795364A/GALMS1intron0.9921.044560.01460.0028276
rs621497792:73808307A/GALMS1intron0.9010.981870.02420.45016
rs621497802:73811343C/GALMS1intron0.9010.981570.02420.44256
rs621497812:73812623A/CALMS1intron0.9870.937630.01318.209E-77
rs621497822:73819028C/GALMS1intron0.9721.040500.01460.0063316
rs621497842:73824410T/CALMS1intron0.8540.930900.03820.060857
rs621498042:73837006A/TALMS1untranslated-30.9651.048120.01450.0011756
rs621515642:73615449A/GALMS1intron0.9930.951800.01480.00080126
rs621516042:73657446T/CALMS1intron0.9871.046030.01470.0022197
rs621516092:73679117A/GALMS1coding-synon0.9591.127270.05460.028265
rs621516522:73700131A/CALMS1intron1.0000.939880.01291.502E-67
rs621531822:73748845C/GALMS1intron0.9950.959250.01470.0045546
rs621531832:73763366A/GALMS1intron0.9950.957240.01460.002817
rs621531842:73773869C/GALMS1intron1.0001.033030.01090.0029547
rs65468292:73613789C/GALMS1intron0.9950.953320.01160.000036724
rs65468302:73635304C/GALMS1intron0.9870.977950.01480.13087
rs65468312:73642072A/TALMS1intron0.9891.021020.01500.16665
rs65468322:73649352A/GALMS1intron0.9890.980200.01510.18656
rs65468332:73661849T/CALMS1intron0.9651.021530.01510.15717
rs65468342:73662087A/GALMS1intron0.9920.980200.01510.18576
rs65468352:73664715A/GALMS1intron1.0001.061840.01282.591E-67
rs65468362:73677833A/GALMS1coding-synon1.0000.940450.01271.447E-67
rs65468372:73677898C/GALMS1missense1.0001.061410.01272.767E-66
rs65468382:73679280A/GALMS1missense1.0000.941110.01271.736E-67
rs65468392:73680508C/GALMS1missense1.0001.060990.01273.122E-67
rs65468422:73736957C/GALMS1intron0.9911.022450.01510.14087
rs65468452:73770077T/GALMS1intron0.9960.942330.01283.185E-66
rs65468462:73770162A/CALMS1intron0.9870.964060.01110.00092017
rs65468472:73785358A/GALMS1intron1.0000.942050.01272.587E-65
rs65468492:73831037A/GALMS1intron0.9980.942800.01273.555E-67
rs65468502:73831147A/TALMS1intron1.0000.942610.01273.372E-67
rs65468512:73833283T/CALMS1intron1.0001.060780.01273.407E-66
rs65468522:73833431A/GALMS1intron1.0001.060780.01273.483E-67
rs65468532:73833739A/GALMS1intron1.0001.060780.01273.489E-67
rs65468542:73834034A/GALMS1intron1.0000.940640.01292.005E-66
rs669313352:73773933A/GALMS1intron0.9880.980590.01500.19176
rs67047822:73766454A/TALMS1intron0.9950.938940.01301.239E-67
rs67062352:73613558C/GALMS1intron0.9980.953320.01160.000035794
rs67087662:73737204A/TALMS1intron0.9950.939130.01301.287E-67
rs67104382:73820108C/GALMS1intron1.0001.061730.01293.451E-66
rs67294682:73765253A/CALMS1intron1.0001.033030.01090.0028755
rs67324402:73827099T/GALMS1intron1.0001.033450.01100.0026896
rs67402232:73653332T/CALMS1intron0.9910.942900.01273.836E-65
rs67410672:73623882T/CALMS1intron0.9610.936220.01293.604E-77
rs67446972:73765438T/CALMS1intron1.0000.968310.01090.0032176
rs67464582:73665866T/CALMS1intron0.9930.978830.01510.15576
rs67469712:73669462T/CALMS1intron1.0000.967640.01100.0027636
rs67533442:73653138A/GALMS1intron1.0000.940260.01291.772E-66
rs67552172:73641285T/CALMS1intron0.9991.067590.01304.665E-76
rs67552412:73641364T/CALMS1intron0.9991.068010.01303.956E-77
rs67568852:73805172A/GALMS1intron1.0000.939690.01291.368E-67
rs67579962:73772251A/GALMS1intron1.0001.033760.01100.0024837
rs678770782:73795641T/CALMS1intron0.9920.980790.01500.19747
rs678980502:73743010T/CALMS1intron0.9921.022140.01510.1477
rs681542452:73743715T/CALMS1intron0.9920.978530.01510.14977
rs728099982:73628938A/CALMS1intron0.6271.011870.01840.52057
rs728119042:73645863A/GALMS1intron0.6211.089260.02400.00036545
rs728119072:73649567T/GALMS1intron0.9940.983930.01940.40487
rs728119082:73649661A/GALMS1intron0.9700.965320.02580.17147
rs728119182:73694905T/GALMS1intron0.9710.965220.02590.17077
rs728119312:73730083A/CALMS1intron0.9640.966470.02560.18376
rs728119372:73747574A/TALMS1intron0.9361.032100.03360.34767
rs728119392:73764457T/CALMS1intron0.9910.980100.01510.18177
rs728119462:73787971T/CALMS1intron0.9620.967540.02560.19887
rs739478082:73721250A/CALMS1intron0.9990.939790.01291.602E-62b
rs74246902:73806632T/CALMS1intron0.9950.942140.01315.146E-66
rs744820882:73770087A/GALMS1intron0.9350.982460.01550.25387
rs745235602:73764185T/CALMS1intron0.9891.044560.01470.003117
rs750849912:73726925A/GALMS1intron0.7440.944220.05790.3215
rs751134422:73726701A/GALMS1intron0.9901.093630.02280.000088547
rs752748242:73797365T/CALMS1intron0.9800.985310.01950.44857
rs75727222:73724675T/CALMS1intron1.0000.939410.01291.274E-66
rs758442842:73696511A/GALMS1intron0.9330.958870.02740.12567
rs75851192:73724679A/TALMS1intron1.0000.969670.01090.0048426
rs75881692:73732096C/GALMS1intron1.0001.061620.01282.711E-67
rs75945112:73681639A/GALMS1intron1.0000.939790.01291.39E-66
rs75986602:73740425A/GALMS1intron0.9951.021530.01070.046846
rs76036472:73817238A/GALMS1intron1.0001.062580.01292.601E-66
rs76064832:73735674A/GALMS1intron0.9870.966570.01110.0021177
rs761422052:73729642T/CALMS1intron0.9900.915300.02280.00010696
rs762243972:73818790A/CALMS1intron0.8981.011060.05760.84796
rs762346392:73692652T/CALMS1intron0.9900.977750.01510.13667
rs763634342:73615752C/GALMS1intron0.6591.015010.03540.67436
rs776909872:73628772A/GALMS1intron0.6311.202860.05480.00075186
rs7803902:73714933T/CALMS1intron0.9810.978140.01500.14026
rs783394072:73691144A/CALMS1intron0.9920.970350.01090.0057787
rs784254452:73793425A/GALMS1intron0.9911.018570.02250.41447
rs784922002:73768232T/GALMS1intron1.0000.941290.01282.104E-67
rs789843872:73628643A/GALMS1intron0.8760.971900.03500.41556
rs797991782:73791235A/GALMS1intron0.9950.956950.01460.0025726
rs93094732:73743982A/GALMS1intron1.0000.939790.01291.511E-66
rs96535572:73795962A/CALMS1intron1.0000.940070.01291.634E-66
rs97498592:73811908C/GALMS1intron0.9941.062690.01271.826E-66
rs97509152:73811880T/CALMS1intron1.0000.939510.01291.288E-67
rs97530792:73733313T/CALMS1intron0.9421.065240.01373.921E-67
rs98079612:73694043A/GALMS1intron0.9990.942140.01272.93E-66
SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*

  Note: RegulomeDB score*
score supporting data score supporting data
1aeQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak6other
2aTF binding + matched TF motif + matched DNase Footprint + DNase peak5TF binding or DNase peak
1beQTL + TF binding + any motif + DNase Footprint + DNase peak4TF binding + DNase peak
2bTF binding + any motif + DNase Footprint + DNase peak3bTF binding + matched TF motif
1ceQTL + TF binding + matched TF motif + DNase peak1feQTL + TF binding / DNase peak
2cTF binding + matched TF motif + DNase peak3aTF binding + any motif + DNase peak
1deQTL + TF binding + any motif + DNase peak1eeQTL + TF binding + matched TF motif
CNV Information

The gene is not affected by CNV!

eQTL Information