ClinVar Miner

List of variants studied for overnutrition

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 676
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HGVS dbSNP gnomAD frequency
NM_002303.6(LEPR):c.370+16G>T rs2186248 0.99964
NC_000002.12:g.634905T>C rs6548238 0.85166
NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) rs1137101 0.50085
NM_002303.6(LEPR):c.-122T>C rs3790435 0.47981
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_002303.6(LEPR):c.3057G>A (p.Pro1019=) rs1805096 0.43140
NM_000230.3(LEP):c.*2253C>A rs11761556 0.43092
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_005068.3(SIM1):c.*348A>T rs1395119 0.34561
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000439.5(PCSK1):c.*1041T>A rs17085675 0.31161
NM_000439.5(PCSK1):c.*1530T>C rs2882298 0.30559
NM_005068.3(SIM1):c.544-15A>C rs3734353 0.30249
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) rs1137100 0.25399
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
NM_005068.3(SIM1):c.1112C>T (p.Ala371Val) rs3734355 0.17840
NM_000939.4(POMC):c.*63C>T rs1042571 0.15709
NM_005068.3(SIM1):c.*1453G>T rs13201004 0.11671
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_000230.3(LEP):c.*2205G>A rs41457646 0.10795
NM_000230.3(LEP):c.*400G>T rs17151922 0.09344
NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg) rs4994 0.09116
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) rs4684677 0.06619
NM_005912.3(MC4R):c.-178A>C rs34114122 0.04521
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_005068.3(SIM1):c.-127T>C rs41315244 0.03677
NM_000230.3(LEP):c.*366A>T rs28954118 0.03579
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) rs5030980 0.02970
NM_000230.3(LEP):c.*1243A>G rs6966536 0.02955
NM_000939.4(POMC):c.282C>T (p.Ser94=) rs28930368 0.02915
NM_003356.4(UCP3):c.824+1G>A rs45476292 0.02748
NM_005068.3(SIM1):c.*113A>T rs41318039 0.02621
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_000439.5(PCSK1):c.*1333A>T rs6556922 0.02116
NM_002303.6(LEPR):c.2597+15G>C rs6693573 0.01870
NM_000939.4(POMC):c.585C>T (p.Ala195=) rs2071345 0.01639
NM_002303.6(LEPR):c.3024A>G (p.Ser1008=) rs6413506 0.01632
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_005068.3(SIM1):c.1959C>T (p.Thr653=) rs41318041 0.01498
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_002303.6(LEPR):c.*232G>A rs116819844 0.01407
NM_005912.3(MC4R):c.594C>T (p.Ile198=) rs61741819 0.01187
NM_005068.3(SIM1):c.*375C>T rs114523604 0.01179
NM_005068.3(SIM1):c.*51G>A rs55805997 0.01156
NM_000439.5(PCSK1):c.*1842G>A rs10515236 0.01069
NM_002303.6(LEPR):c.2096C>T (p.Thr699Met) rs34499590 0.01048
NM_003356.4(UCP3):c.127-7C>T rs77012485 0.00848
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) rs34911341 0.00747
NM_000230.3(LEP):c.*2224G>A rs28959472 0.00721
NM_005068.3(SIM1):c.-90C>A rs114664173 0.00701
NM_000439.5(PCSK1):c.*597T>C rs115434587 0.00689
NM_005068.3(SIM1):c.*937C>A rs41318037 0.00670
NM_000230.3(LEP):c.*2799C>T rs200887574 0.00666
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236 0.00661
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_000230.3(LEP):c.*2015C>A rs28959471 0.00615
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) rs80326661 0.00552
NM_001035256.2(POMC):c.-203A>G rs139229417 0.00551
NM_000230.3(LEP):c.*150G>A rs28954115 0.00537
NM_000439.5(PCSK1):c.*1132C>T rs139172738 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_000230.3(LEP):c.*1010C>A rs138289049 0.00481
NM_005912.3(MC4R):c.-176A>G rs78877161 0.00473
NM_002303.6(LEPR):c.-161C>T rs372078226 0.00451
NM_002303.6(LEPR):c.-20-15A>T rs116571599 0.00451
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn) rs151014108 0.00413
NM_005068.3(SIM1):c.*999T>C rs79109100 0.00372
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) rs199636726 0.00346
NM_005068.3(SIM1):c.2100C>G (p.Gly700=) rs77655804 0.00331
NM_000230.3(LEP):c.*33C>T rs62481073 0.00302
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_005068.3(SIM1):c.*470C>T rs139499643 0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_002303.6(LEPR):c.36T>C (p.His12=) rs147768538 0.00286
NM_000230.3(LEP):c.*204C>T rs113405088 0.00283
NM_000939.4(POMC):c.346C>T (p.Leu116=) rs34650613 0.00259
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_005068.3(SIM1):c.1994G>A (p.Arg665His) rs146866401 0.00255
NM_138711.6(PPARG):c.1362C>T (p.Ile454=) rs149367249 0.00250
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_000230.3(LEP):c.*2053G>A rs17617757 0.00215
NM_000230.3(LEP):c.*2110G>T rs187235717 0.00197
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_002303.6(LEPR):c.*403T>C rs375886561 0.00185
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470 0.00173
NM_000230.3(LEP):c.*373G>A rs183801334 0.00169
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_005068.3(SIM1):c.2292C>T (p.Asn764=) rs143803280 0.00162
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_005068.3(SIM1):c.*1331T>C rs554615450 0.00148
NM_000230.3(LEP):c.*300C>T rs191600447 0.00143
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_000230.3(LEP):c.*1014C>G rs151325384 0.00120
NM_000439.5(PCSK1):c.*2187G>A rs191960713 0.00113
NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln) rs145432134 0.00105
NM_005068.3(SIM1):c.*15A>G rs143801416 0.00099
NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) rs149540566 0.00096
NM_000230.3(LEP):c.*360G>A rs200748706 0.00094
NM_000230.3(LEP):c.*2738G>A rs201644572 0.00093
NM_005068.3(SIM1):c.*450T>C rs537039330 0.00089
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile) rs145479047 0.00089
NM_000230.3(LEP):c.*1260A>G rs144195028 0.00087
NM_000230.3(LEP):c.*1640C>T rs201065449 0.00086
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) rs149927060 0.00083
NM_005068.3(SIM1):c.279C>T (p.Phe93=) rs145361258 0.00073
NM_002303.6(LEPR):c.594G>A (p.Val198=) rs140347630 0.00072
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) rs150936702 0.00071
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) rs142097318 0.00068
NM_000439.5(PCSK1):c.*262del rs886060885 0.00065
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) rs13447329 0.00065
NM_005912.3(MC4R):c.468G>A (p.Gln156=) rs144393256 0.00060
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_000230.3(LEP):c.*1428C>A rs76601079 0.00057
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) rs189927028 0.00057
NM_138711.6(PPARG):c.348T>C (p.Ala116=) rs147975759 0.00056
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_000230.3(LEP):c.*1678C>T rs188857005 0.00048
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_002303.6(LEPR):c.2674-5935A>C rs551017633 0.00042
NM_000439.5(PCSK1):c.-21G>A rs188670849 0.00041
NM_000230.3(LEP):c.*2503C>T rs200431904 0.00040
NM_000439.5(PCSK1):c.*1307A>G rs554558654 0.00039
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla) rs762710034 0.00039
NM_000439.5(PCSK1):c.*1733G>A rs189919167 0.00038
NM_000939.4(POMC):c.*28del rs756770132 0.00038
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) rs193922686 0.00037
NM_002303.6(LEPR):c.-51T>G rs150026062 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_003356.4(UCP3):c.356G>A (p.Arg119Gln) rs17848372 0.00035
NM_002303.6(LEPR):c.*153A>G rs147380894 0.00034
NM_005068.3(SIM1):c.*183A>T rs145341368 0.00034
NM_003356.4(UCP3):c.72C>T (p.Ala24=) rs70965455 0.00031
NM_005068.3(SIM1):c.1569T>C (p.His523=) rs138590764 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_002303.6(LEPR):c.*453C>T rs191470560 0.00030
NM_000439.5(PCSK1):c.-140C>T rs142567487 0.00029
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_002303.6(LEPR):c.*99A>G rs529659801 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) rs544018373 0.00027
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) rs145558922 0.00027
NM_005357.4(LIPE):c.3040G>A (p.Val1014Met) rs193061079 0.00027
NM_000230.3(LEP):c.*1185C>T rs200556203 0.00026
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_002303.6(LEPR):c.611A>G (p.Lys204Arg) rs146442768 0.00023
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) rs142840946 0.00022
NM_000230.3(LEP):c.*2245C>G rs201052331 0.00021
NM_000230.3(LEP):c.53A>G (p.Tyr18Cys) rs148407750 0.00021
NM_000439.5(PCSK1):c.*1231C>T rs886060881 0.00021
NM_001138.2(AGRP):c.264A>G (p.Val88=) rs145840661 0.00021
NM_005912.3(MC4R):c.-386G>A rs756482194 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_005912.3(MC4R):c.-216C>T rs139025325 0.00020
NM_000230.3(LEP):c.*1124G>A rs3750034 0.00019
NM_000939.4(POMC):c.429C>G (p.His143Gln) rs201519174 0.00019
NM_000439.5(PCSK1):c.*2611A>G rs746472388 0.00018
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) rs146545244 0.00018
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) rs140520429 0.00016
NM_005068.3(SIM1):c.*99G>A rs777887808 0.00016
NM_005068.3(SIM1):c.1236C>A (p.Thr412=) rs200106103 0.00016
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_005912.3(MC4R):c.-60C>G rs763156013 0.00015
NM_138711.6(PPARG):c.417G>A (p.Leu139=) rs41415646 0.00015
NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser) rs200277866 0.00014
NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg) rs200133226 0.00014
NM_000230.3(LEP):c.*2800G>A rs1378129983 0.00014
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) rs145592525 0.00014
NM_000939.4(POMC):c.26C>T (p.Ser9Leu) rs139750421 0.00014
NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile) rs143319015 0.00014
NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=) rs193922651 0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_000439.5(PCSK1):c.*1443C>T rs182581645 0.00013
NM_002303.6(LEPR):c.2370A>C (p.Ser790=) rs13306528 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_032898.5(CEP19):c.-11T>C rs147719730 0.00013
NM_000439.5(PCSK1):c.*287A>G rs373041583 0.00012
NM_005068.3(SIM1):c.1865C>T (p.Ser622Phe) rs199543656 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_000230.3(LEP):c.*781G>C rs70940808 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) rs200969251 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005912.3(MC4R):c.972C>T (p.Gly324=) rs150448918 0.00011
NM_000230.3(LEP):c.165G>A (p.Gln55=) rs138908051 0.00010
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000939.4(POMC):c.*120A>G rs886055853 0.00010
NM_000939.4(POMC):c.-20-906C>T rs886055855 0.00010
NM_000439.5(PCSK1):c.*471C>G rs886060884 0.00009
NM_002303.6(LEPR):c.*251G>T rs1032178127 0.00009
NM_002303.6(LEPR):c.*287G>C rs974484944 0.00009
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala) rs375934938 0.00009
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp) rs763155375 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_032898.5(CEP19):c.283C>T (p.Arg95Trp) rs201163650 0.00009
NM_000230.3(LEP):c.*1318G>C rs200129463 0.00008
NM_000230.3(LEP):c.*1825T>C rs199792491 0.00008
NM_003356.4(UCP3):c.490G>A (p.Asp164Asn) rs367566750 0.00008
NM_005912.3(MC4R):c.-220G>A rs772697287 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_005912.3(MC4R):c.405A>C (p.Ala135=) rs140773238 0.00008
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_000939.4(POMC):c.116C>T (p.Thr39Met) rs200370644 0.00007
NM_002303.6(LEPR):c.-162C>A rs368145929 0.00007
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) rs17848368 0.00007
NM_004714.3(DYRK1B):c.1181C>T (p.Pro394Leu) rs893357514 0.00007
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) rs372947070 0.00007
NM_000230.3(LEP):c.*1886T>G rs201604408 0.00006
NM_000230.3(LEP):c.*653A>C rs201341056 0.00006
NM_000439.5(PCSK1):c.*2634G>A rs1050484297 0.00006
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn) rs780534740 0.00006
NM_003356.4(UCP3):c.202A>G (p.Met68Val) rs370829405 0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) rs121909065 0.00006
NM_005912.3(MC4R):c.-295A>G rs926966481 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_000439.5(PCSK1):c.*2582A>G rs1470735979 0.00005
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) rs765217767 0.00005
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) rs1026383684 0.00005
NM_000439.5(PCSK1):c.624C>T (p.His208=) rs111380006 0.00005
NM_005068.3(SIM1):c.*1369C>A rs1188034610 0.00005
NM_005912.3(MC4R):c.21T>C (p.Arg7=) rs760074702 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_000439.5(PCSK1):c.*170A>T rs950364201 0.00004
NM_000439.5(PCSK1):c.*2019A>G rs558370034 0.00004
NM_000439.5(PCSK1):c.*2288A>G rs886060874 0.00004
NM_000439.5(PCSK1):c.*438C>A rs750185441 0.00004
NM_000439.5(PCSK1):c.1884+13C>G rs369199804 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_000939.4(POMC):c.638C>T (p.Ala213Val) rs757423347 0.00004
NM_001201407.2(ZNF778):c.1894C>T (p.Leu632Phe) rs760873642 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_002303.6(LEPR):c.-120C>T rs189950527 0.00004
NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) rs200240836 0.00004
NM_002303.6(LEPR):c.1635A>G (p.Ala545=) rs199507516 0.00004
NM_002303.6(LEPR):c.345A>G (p.Val115=) rs773805917 0.00004
NM_003356.4(UCP3):c.386T>C (p.Met129Thr) rs1047063799 0.00004
NM_005068.3(SIM1):c.*1125T>C rs758539915 0.00004
NM_005068.3(SIM1):c.2108G>A (p.Arg703Gln) rs376058205 0.00004
NM_005068.3(SIM1):c.624G>A (p.Val208=) rs753737612 0.00004
NM_005912.3(MC4R):c.534G>A (p.Thr178=) rs146056286 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_138711.6(PPARG):c.198C>T (p.Asp66=) rs753817211 0.00004
NM_000230.3(LEP):c.*1549T>C rs201701012 0.00003
NM_000230.3(LEP):c.212C>A (p.Thr71Asn) rs886061973 0.00003
NM_000439.5(PCSK1):c.*1401C>T rs886060880 0.00003
NM_000439.5(PCSK1):c.*1571A>G rs886060878 0.00003
NM_000439.5(PCSK1):c.*88G>C rs886060886 0.00003
NM_000439.5(PCSK1):c.*905T>C rs886060883 0.00003
NM_000439.5(PCSK1):c.*974A>G rs1039266884 0.00003
NM_000439.5(PCSK1):c.1196+10A>G rs755372795 0.00003
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) rs769203665 0.00003
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) rs750104173 0.00003
NM_000939.4(POMC):c.498C>T (p.Asp166=) rs760352559 0.00003
NM_002303.6(LEPR):c.1374G>A (p.Ala458=) rs768308728 0.00003
NM_002303.6(LEPR):c.2185T>G (p.Leu729Val) rs768503592 0.00003
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) rs532294036 0.00003
NM_002303.6(LEPR):c.704-8T>C rs183928195 0.00003
NM_005068.3(SIM1):c.*589G>A rs769730169 0.00003
NM_005068.3(SIM1):c.-58T>C rs886060898 0.00003
NM_005068.3(SIM1):c.1193C>T (p.Ser398Leu) rs1344055699 0.00003
NM_005068.3(SIM1):c.2194T>C (p.Leu732=) rs886060894 0.00003
NM_005912.3(MC4R):c.-121G>A rs541962206 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005912.3(MC4R):c.776C>T (p.Ala259Val) rs762825773 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser) rs1057518811 0.00003
NM_138711.6(PPARG):c.1224A>G (p.Gln408=) rs28763894 0.00003
NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) rs1800571 0.00003
NM_000230.3(LEP):c.143C>T (p.Thr48Met) rs770247453 0.00002
NM_000439.5(PCSK1):c.*120C>T rs915412736 0.00002
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) rs762962091 0.00002
NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His) rs1060499723 0.00002
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) rs753573139 0.00002
NM_002303.6(LEPR):c.1701C>T (p.Asn567=) rs2228301 0.00002
NM_002303.6(LEPR):c.536G>A (p.Gly179Asp) rs151190195 0.00002
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) rs776647803 0.00002
NM_003356.4(UCP3):c.274G>A (p.Ala92Thr) rs192655642 0.00002
NM_005068.3(SIM1):c.*1278C>T rs886060893 0.00002
NM_005068.3(SIM1):c.1147A>G (p.Arg383Gly) rs188821440 0.00002
NM_005912.3(MC4R):c.15C>T (p.Thr5=) rs199862517 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_012062.5(DNM1L):c.28A>T (p.Lys10Ter) rs745921568 0.00002
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter) rs587777230 0.00002
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) rs777334819 0.00002
NM_138711.6(PPARG):c.393T>C (p.Gly131=) rs201126401 0.00002
NM_000230.3(LEP):c.*1369G>T rs1482418354 0.00001
NM_000230.3(LEP):c.*1579G>A rs200802392 0.00001
NM_000230.3(LEP):c.*1637A>G rs780861433 0.00001
NM_000230.3(LEP):c.*1738G>A rs201949587 0.00001
NM_000230.3(LEP):c.*1749T>C rs1483827030 0.00001
NM_000230.3(LEP):c.*57C>T rs1795318328 0.00001
NM_000230.3(LEP):c.*69A>G rs886061974 0.00001
NM_000230.3(LEP):c.*992G>T rs886061976 0.00001
NM_000230.3(LEP):c.144+15C>T rs776318015 0.00001
NM_000439.5(PCSK1):c.*1912G>A rs886060876 0.00001
NM_000439.5(PCSK1):c.*2636C>T rs1442234605 0.00001
NM_000439.5(PCSK1):c.*837G>A rs772439505 0.00001
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) rs140481124 0.00001
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) rs1168396288 0.00001
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) rs757534603 0.00001
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) rs137852824 0.00001
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) rs1183710202 0.00001
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) rs1314225482 0.00001
NM_000939.4(POMC):c.-11C>A rs753856820 0.00001
NM_000939.4(POMC):c.151A>T (p.Lys51Ter) rs121918112 0.00001
NM_000939.4(POMC):c.491C>T (p.Ala164Val) rs773522618 0.00001
NM_000939.4(POMC):c.4C>T (p.Pro2Ser) rs752925315 0.00001
NM_000939.4(POMC):c.801G>A (p.Glu267=) rs779850714 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_002303.6(LEPR):c.1299T>C (p.Asn433=) rs140137775 0.00001
NM_002303.6(LEPR):c.2046C>T (p.Asn682=) rs192825082 0.00001
NM_002303.6(LEPR):c.2103C>T (p.Phe701=) rs755504289 0.00001
NM_002303.6(LEPR):c.299C>G (p.Ser100Cys) rs1297438423 0.00001
NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys) rs563763692 0.00001
NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) rs779463781 0.00001
NM_002303.6(LEPR):c.371-9T>A rs1253993053 0.00001
NM_002303.6(LEPR):c.666C>G (p.Phe222Leu) rs886046503 0.00001
NM_002303.6(LEPR):c.921G>C (p.Gln307His) rs531183918 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003356.4(UCP3):c.365C>T (p.Ala122Val) rs773117397 0.00001
NM_004714.3(DYRK1B):c.304C>T (p.Arg102Cys) rs367643250 0.00001
NM_005068.3(SIM1):c.-181T>A rs886060899 0.00001
NM_005068.3(SIM1):c.1327A>G (p.Ser443Gly) rs755621081 0.00001
NM_005068.3(SIM1):c.1545C>T (p.His515=) rs758013576 0.00001
NM_005068.3(SIM1):c.1802A>G (p.Lys601Arg) rs781770499 0.00001
NM_005068.3(SIM1):c.2267A>G (p.Lys756Arg) rs762042848 0.00001
NM_005068.3(SIM1):c.226G>A (p.Val76Ile) rs756912317 0.00001
NM_005068.3(SIM1):c.289C>A (p.Pro97Thr) rs1217153562 0.00001
NM_005068.3(SIM1):c.628C>T (p.Leu210=) rs760422116 0.00001
NM_005068.3(SIM1):c.994C>T (p.Leu332Phe) rs1014536148 0.00001
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter) rs1361929051 0.00001
NM_005357.4(LIPE):c.913C>T (p.Arg305Cys) rs373430897 0.00001
NM_005912.3(MC4R):c.-263A>G rs1915374953 0.00001
NM_005912.3(MC4R):c.-375G>T rs886054080 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.373A>G (p.Ile125Val) rs1598932263 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005912.3(MC4R):c.645G>A (p.Met215Ile) rs768687497 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) rs756232889 0.00001
NM_005912.3(MC4R):c.929G>A (p.Arg310Lys) rs1429906794 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) rs1251713297 0.00001
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) rs752134549 0.00001
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) rs558493952 0.00001
NM_138711.6(PPARG):c.-8-28133C>T rs200479885 0.00001
NM_138711.6(PPARG):c.629G>A (p.Arg210Gln) rs150296212 0.00001
NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys) rs772671793 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
46;X;inv(X)(q26q28)dn
46;X;t(X;21)(q26.1;q21.22)dn
46;XX;t(10;15)(q25.2;q11.2)
46;XX;t(2;10)(q22;22.3)dn
46;XX;t(2;11)(q11.2;p13)dn
46;XX;t(7;12)(q11.2;q12).ish
46;XX;t(9;19)(q22.3;q13.1)dn
46;XY;t(1;2)(q31.2;p15)
46;XY;t(1;6)(p32;p24)
46;Y;inv(X)(q27q28)
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3
GRCh37/hg19 15q11.2(chr15:22765628-23300287)
GRCh37/hg19 16p11.2(chr16:29592783-30190568)
GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1
GRCh37/hg19 19p13.3(chr19:3976203-4345430)
GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723)
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1
NC_000003.12:g.41359534_41821951del
NC_000012.12:g.49853685G>A rs7138803
NC_012920.1(MT-CYB):m.15497G>A rs199951903
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000230.3(LEP):c.*1422A>T rs1795337523
NM_000230.3(LEP):c.*1720A>G rs10954174
NM_000230.3(LEP):c.*2234G>A rs886061977
NM_000230.3(LEP):c.*2263G>A rs1795349651
NM_000230.3(LEP):c.*2267A>C rs886061978
NM_000230.3(LEP):c.*2410G>A rs28959474
NM_000230.3(LEP):c.*2437C>T rs536449594
NM_000230.3(LEP):c.*2527G>T rs886061979
NM_000230.3(LEP):c.*2579G>A rs200738664
NM_000230.3(LEP):c.*2595C>A rs28959475
NM_000230.3(LEP):c.*2595C>T rs28959475
NM_000230.3(LEP):c.*2819_*2822dup rs56247456
NM_000230.3(LEP):c.*2820_*2822dup rs56247456
NM_000230.3(LEP):c.*2822dup rs56247456
NM_000230.3(LEP):c.*422G>C rs886061975
NM_000230.3(LEP):c.*750G>C rs977939827
NM_000230.3(LEP):c.*785A>G rs114834517
NM_000230.3(LEP):c.*962T>G rs1795330798
NM_000230.3(LEP):c.-14T>G rs1795280375
NM_000230.3(LEP):c.175G>A (p.Gly59Ser) rs200575914
NM_000230.3(LEP):c.181G>A (p.Asp61Asn) rs886061972
NM_000230.3(LEP):c.190C>T (p.Pro64Ser)
NM_000230.3(LEP):c.313C>T (p.Arg105Trp) rs104894023
NM_000230.3(LEP):c.398del (p.Gly133fs)
NM_000230.3(LEP):c.436G>T (p.Ala146Ser) rs1795315989
NM_000230.3(LEP):c.461T>C (p.Leu154Pro) rs1554394014
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000439.5(PCSK1):c.*1097C>A rs867846512
NM_000439.5(PCSK1):c.*1164T>C rs886060882
NM_000439.5(PCSK1):c.*1232G>A rs373852338
NM_000439.5(PCSK1):c.*1372C>G rs764110111
NM_000439.5(PCSK1):c.*1414A>C rs886060879
NM_000439.5(PCSK1):c.*1854T>A rs886060877
NM_000439.5(PCSK1):c.*1967C>T rs41276267
NM_000439.5(PCSK1):c.*2115G>A rs147244631
NM_000439.5(PCSK1):c.*2166C>T rs886060875
NM_000439.5(PCSK1):c.*245G>T rs1759988394
NM_000439.5(PCSK1):c.*737_*739dup rs5869716
NM_000439.5(PCSK1):c.*826del rs34572181
NM_000439.5(PCSK1):c.-137A>G rs886060889
NM_000439.5(PCSK1):c.-147C>G rs886060890
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000439.5(PCSK1):c.1024del (p.Trp342fs)
NM_000439.5(PCSK1):c.1095+1G>A
NM_000439.5(PCSK1):c.1095+1G>T
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) rs2112399256
NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln) rs771457696
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) rs1580746829
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
NM_000439.5(PCSK1):c.1430+7A>G
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) rs137852821
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) rs1580744791
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) rs1580744780
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) rs1760081033
NM_000439.5(PCSK1):c.1884+11C>T rs1389335567
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) rs1760001769
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) rs886060887
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter) rs765019354
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)
NM_000439.5(PCSK1):c.620+4A>C rs1580764441
NM_000439.5(PCSK1):c.621-8A>G
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) rs137852823
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) rs150991567
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) rs137852822
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr)
NM_000439.5(PCSK1):c.818del (p.Asp273fs)
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)
NM_000439.5(PCSK1):c.928G>A (p.Gly310Arg)
NM_000439.5(PCSK1):c.951T>G (p.Cys317Trp)
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) rs1580755294
NM_000439.5(PCSK1):c.958dup (p.Asp320fs) rs2112419752
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter) rs1591461970
NM_000939.4(POMC):c.-20-675A>G
NM_000939.4(POMC):c.-20-904T>C rs886055854
NM_000939.4(POMC):c.-21+1G>A
NM_000939.4(POMC):c.-21+8C>A
NM_000939.4(POMC):c.133-2A>C rs1553400259
NM_000939.4(POMC):c.180del (p.Met60fs) rs2149220092
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4]) rs10654394
NM_000939.4(POMC):c.283A>G (p.Ser95Gly) rs550376110
NM_000939.4(POMC):c.313G>T (p.Glu105Ter) rs121918111
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_000939.4(POMC):c.403_404dup (p.Lys136fs) rs796065035
NM_000939.4(POMC):c.416dup (p.Tyr139Ter) rs1573250294
NM_000939.4(POMC):c.433del (p.Arg145fs) rs796065034
NM_000939.4(POMC):c.434G>A (p.Arg145His) rs45463492
NM_000939.4(POMC):c.474G>T (p.Lys158Asn) rs373721473
NM_000939.4(POMC):c.642G>A (p.Glu214=) rs1671345551
NM_000939.4(POMC):c.73C>T (p.Arg25Cys)
NM_000939.4(POMC):c.84C>A (p.Cys28Ter) rs1573254045
NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)
NM_001035256.2(POMC):c.-263C>A rs556369764
NM_001035256.2(POMC):c.297_298ins90 (p.?)
NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter) rs1419374563
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) rs1553548194
NM_001190274.2(FBXO11):c.440C>G (p.Ser147Ter) rs1572820988
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) rs1590746439
NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter) rs757650929
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs) rs2147793377
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001394028.1(PYY):c.185A>C (p.Gln62Pro) rs267606994
NM_001709.5(BDNF):c.-21-15633G>A rs1564961192
NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr) rs1852795747
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_002303.5(LEPR):c.-186C>T rs1646225829
NM_002303.6(LEPR):c.*112T>C rs886046506
NM_002303.6(LEPR):c.*188A>C rs886046507
NM_002303.6(LEPR):c.*201C>T rs577287309
NM_002303.6(LEPR):c.*346CA[8] rs10552268
NM_002303.6(LEPR):c.*48G>C rs987448071
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) rs1364613256
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) rs757358893
NM_002303.6(LEPR):c.1341C>T (p.Cys447=) rs1656463888
NM_002303.6(LEPR):c.1413T>A (p.Leu471=) rs1656724477
NM_002303.6(LEPR):c.1752+1G>A
NM_002303.6(LEPR):c.1967dup (p.Glu657fs)
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu) rs746887338
NM_002303.6(LEPR):c.2597+1G>A rs1474810899
NM_002303.6(LEPR):c.260T>C (p.Phe87Ser) rs891183270
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys) rs193922650
NM_002303.6(LEPR):c.2970C>G (p.Ile990Met) rs751719702
NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met) rs886046505
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) rs1553174844
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.421A>G (p.Ile141Val)
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) rs1557670950
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.716C>T (p.Pro239Leu) rs886046504
NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) rs996361966
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_003356.4(UCP3):c.126+1G>C
NM_003356.4(UCP3):c.383C>A (p.Ala128Asp)
NM_003356.4(UCP3):c.63C>G (p.Gly21=) rs181883754
NM_003466.4(PAX8):c.1011del (p.Val339fs) rs1558700308
NM_004176.5(SREBF1):c.2605G>A (p.Val869Ile)
NM_004714.3(DYRK1B):c.1256G>T (p.Arg419Leu)
NM_004714.3(DYRK1B):c.1269G>T (p.Leu423=)
NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg)
NM_004714.3(DYRK1B):c.1541G>A (p.Arg514Gln) rs1333583026
NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser)
NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)
NM_004714.3(DYRK1B):c.1729C>T (p.Pro577Ser)
NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val)
NM_004714.3(DYRK1B):c.1811C>T (p.Pro604Leu)
NM_004714.3(DYRK1B):c.269A>C (p.His90Pro) rs587777380
NM_004714.3(DYRK1B):c.532C>G (p.Arg178Gly)
NM_004714.3(DYRK1B):c.63+7G>A
NM_005068.3(SIM1):c.*1132A>C rs74728933
NM_005068.3(SIM1):c.*128C>A rs1029968837
NM_005068.3(SIM1):c.*521A>G rs1770591929
NM_005068.3(SIM1):c.*56A>C rs1770603424
NM_005068.3(SIM1):c.*583G>C rs776246157
NM_005068.3(SIM1):c.*775G>A rs1049961951
NM_005068.3(SIM1):c.*873T>C rs1582597188
NM_005068.3(SIM1):c.1054C>A (p.Pro352Thr) rs3734354
NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser) rs3734354
NM_005068.3(SIM1):c.1125C>T (p.Leu375=) rs886060896
NM_005068.3(SIM1):c.1260G>C (p.Leu420=) rs781333048
NM_005068.3(SIM1):c.1352T>A (p.Leu451His) rs1770699139
NM_005068.3(SIM1):c.1452C>G (p.Ala484=) rs779506359
NM_005068.3(SIM1):c.2039C>T (p.Ser680Leu) rs149142065
NM_005068.3(SIM1):c.2111A>T (p.Gln704Leu) rs886060895
NM_005068.3(SIM1):c.2193C>T (p.Ser731=) rs747010066
NM_005068.3(SIM1):c.264G>A (p.Leu88=) rs374914727
NM_005068.3(SIM1):c.475T>C (p.Ser159Pro)
NM_005068.3(SIM1):c.616del (p.Gln206fs) rs2114540946
NM_005068.3(SIM1):c.804T>C (p.His268=) rs761256648
NM_005068.3(SIM1):c.804T>G (p.His268Gln) rs761256648
NM_005068.3(SIM1):c.816C>T (p.Cys272=) rs764549841
NM_005068.3(SIM1):c.817G>A (p.Asp273Asn) rs2114540224
NM_005068.3(SIM1):c.916T>C (p.Trp306Arg) rs1772382980
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs)
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)
NM_005357.4(LIPE):c.3079C>A (p.Leu1027Met)
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005357.4(LIPE):c.3212G>C (p.Gly1071Ala)
NM_005912.3(MC4R):c.-161C>T rs886054079
NM_005912.3(MC4R):c.-18T>C rs886054077
NM_005912.3(MC4R):c.-359C>A rs982798124
NM_005912.3(MC4R):c.-360G>A rs530787706
NM_005912.3(MC4R):c.-59G>A rs750662653
NM_005912.3(MC4R):c.-64G>A rs1485034384
NM_005912.3(MC4R):c.-66C>T rs886054078
NM_005912.3(MC4R):c.127C>A (p.Gln43Lys)
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) rs121913566
NM_005912.3(MC4R):c.201G>A (p.Val67=) rs886054076
NM_005912.3(MC4R):c.272T>G (p.Met91Arg)
NM_005912.3(MC4R):c.283G>A (p.Val95Ile)
NM_005912.3(MC4R):c.346_347del (p.Ser116fs)
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) rs193922685
NM_005912.3(MC4R):c.549G>C (p.Leu183Phe) rs2143966570
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.655G>T (p.Ala219Ser) rs1915344558
NM_005912.3(MC4R):c.706del (p.Arg236fs)
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) rs121913562
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) rs1915338291
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr) rs1915337291
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) rs121917829
NM_005912.3(MC4R):c.906T>G (p.Tyr302Ter)
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) rs775382722
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_005912.3(MC4R):c.949A>T (p.Ile317Phe) rs778685158
NM_005912.3(MC4R):c.[105C>A;110A>T]
NM_006180.6(NTRK2):c.2000C>G (p.Ser667Trp) rs777251032
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro) rs766819113
NM_014974.3(DIP2C):c.262C>T (p.Arg88Trp) rs965093390
NM_015047.3(EMC1):c.313C>T (p.Arg105Ter) rs148538980
NM_015100.4(POGZ):c.3638G>A (p.Trp1213Ter) rs1571321748
NM_016362.5(GHRL):c.255del (p.Lys85fs) rs1044457750
NM_017774.3(CDKAL1):c.371+11642G>C rs7754840
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019888.3(MC3R):c.151G>C (p.Val51Leu)
NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) rs1567499068
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly)
NM_021969.3(NR0B2):c.227del (p.Phe76fs) rs779783209
NM_021969.3(NR0B2):c.253_254dup (p.Arg86fs)
NM_021969.3(NR0B2):c.293_301delinsAC (p.Leu98fs) rs1570714352
NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys)
NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys)
NM_021969.3(NR0B2):c.596T>C (p.Leu199Pro)
NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys)
NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys) rs777140276
NM_021969.3(NR0B2):c.749T>C (p.Leu250Pro)
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter) rs574130689
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) rs1352544800
NM_033440.3(CELA2A):c.639+1G>C rs752331004
NM_080552.3(SLC32A1):c.1121T>C (p.Leu374Pro)
NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu) rs886057902
NM_138711.6(PPARG):c.1419C>T (p.Asp473=) rs886057903
NM_138711.6(PPARG):c.431A>G (p.Asp144Gly) rs1211829538
NM_138711.6(PPARG):c.46_58del (p.Ser17fs) rs2049559215
NM_138711.6(PPARG):c.56A>C (p.Asp19Ala) rs762280243
NM_138711.6(PPARG):c.78C>G (p.His26Gln)
NM_138711.6(PPARG):c.801C>G (p.Pro267=) rs13306747
NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg) rs2141798346
POMC, 1-BP DEL, NT6996
POMC, 1-BP INS, 6922C
Single allele

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