NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln)
|
rs762660751
|
0.00006
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)
|
rs759011231
|
0.00003
|
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)
|
rs202230698
|
0.00003
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)
|
rs199572514
|
0.00002
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
NM_000322.5(PRPH2):c.38G>A (p.Arg13Gln)
|
rs745427463
|
0.00001
|
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys)
|
rs1761910060
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
NM_000322.5(PRPH2):c.622G>A (p.Gly208Ser)
|
rs901479607
|
0.00001
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)
|
rs369507460
|
0.00001
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys)
|
rs370994796
|
0.00001
|
NC_000006.11:g.(?_42672083)_(42672369_?)dup
|
|
|
NC_000006.11:g.42663546_42670306delins(?)
|
|
|
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)
|
rs1799984208
|
|
NM_000322.5(PRPH2):c.112G>T (p.Gly38Ter)
|
rs1761918414
|
|
NM_000322.5(PRPH2):c.174_184del (p.His58fs)
|
rs1554270848
|
|
NM_000322.5(PRPH2):c.1A>G (p.Met1Val)
|
rs1761921867
|
|
NM_000322.5(PRPH2):c.202G>C (p.Gly68Arg)
|
rs61755774
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)
|
rs1761915143
|
|
NM_000322.5(PRPH2):c.271T>C (p.Tyr91His)
|
rs747893076
|
|
NM_000322.5(PRPH2):c.276dup (p.Arg93fs)
|
rs1582780842
|
|
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)
|
rs1761921113
|
|
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)
|
rs61755776
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
NM_000322.5(PRPH2):c.331del (p.Ile111fs)
|
rs1562434099
|
|
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del)
|
rs61755777
|
|
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)
|
rs2152010976
|
|
NM_000322.5(PRPH2):c.377T>G (p.Leu126Arg)
|
rs2152010976
|
|
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
|
rs1761911206
|
|
NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg)
|
rs1761911206
|
|
NM_000322.5(PRPH2):c.40_41insGT (p.Val14fs)
|
rs2152011148
|
|
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)
|
rs527236097
|
|
NM_000322.5(PRPH2):c.415_417del (p.Lys139del)
|
rs2152010954
|
|
NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp)
|
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)
|
rs2152010930
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs)
|
rs1554270806
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.469G>C (p.Asp157His)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)
|
|
|
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)
|
rs1761907993
|
|
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)
|
rs1582780550
|
|
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)
|
|
|
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)
|
rs2152010916
|
|
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.4G>T (p.Ala2Ser)
|
rs1424831291
|
|
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)
|
|
|
NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del)
|
rs61755790
|
|
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)
|
rs1761906682
|
|
NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.520T>A (p.Trp174Arg)
|
rs1395223954
|
|
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)
|
rs1064793237
|
|
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
|
|
|
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)
|
rs61755795
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.536G>T (p.Trp179Leu)
|
rs2152010886
|
|
NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser)
|
rs62645926
|
|
NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly)
|
rs2152010856
|
|
NM_000322.5(PRPH2):c.581+1G>A
|
rs1761904690
|
|
NM_000322.5(PRPH2):c.581+5G>A
|
rs2152010844
|
|
NM_000322.5(PRPH2):c.582-14T>A
|
rs2152005424
|
|
NM_000322.5(PRPH2):c.582-1G>A
|
rs1800118693
|
|
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu)
|
rs1331346375
|
|
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)
|
rs1322278463
|
|
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)
|
rs1322278463
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn)
|
rs1131691378
|
|
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)
|
rs1800118385
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)
|
rs375978676
|
|
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)
|
rs757988141
|
|
NM_000322.5(PRPH2):c.597del (p.Asn199fs)
|
rs1800118044
|
|
NM_000322.5(PRPH2):c.599T>A (p.Val200Glu)
|
rs62645932
|
|
NM_000322.5(PRPH2):c.599T>C (p.Val200Ala)
|
rs62645932
|
|
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del)
|
rs1800116963
|
|
NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp)
|
|
|
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)
|
rs1800117660
|
|
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)
|
rs1800116472
|
|
NM_000322.5(PRPH2):c.618_626del (p.Asp207_Val209del)
|
rs2152005362
|
|
NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys)
|
rs901479607
|
|
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)
|
rs753657349
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)
|
rs1800116126
|
|
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)
|
rs2152005352
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)
|
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)
|
rs1554269071
|
|
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)
|
rs61755802
|
|
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)
|
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.638G>T (p.Cys213Phe)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)
|
rs1800115811
|
|
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg)
|
rs2152005343
|
|
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr)
|
rs61755804
|
|
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
|
rs1388865786
|
|
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)
|
rs2152005339
|
|
NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)
|
|
|
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)
|
rs1800115494
|
|
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)
|
rs61755806
|
|
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)
|
|
|
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
|
|
|
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)
|
rs61755808
|
|
NM_000322.5(PRPH2):c.656_658del (p.Pro219del)
|
rs61755807
|
|
NM_000322.5(PRPH2):c.657_662del (p.Arg220_Pro221del)
|
rs2152005313
|
|
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)
|
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
|
rs61755810
|
|
NM_000322.5(PRPH2):c.660_665del (p.Pro221_Cys222del)
|
rs2152005308
|
|
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)
|
|
|
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)
|
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.668T>A (p.Ile223Asn)
|
rs1800114220
|
|
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)
|
rs1800114220
|
|
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)
|
rs1800114066
|
|
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)
|
rs61755811
|
|
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter)
|
rs1554269046
|
|
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)
|
rs1554269046
|
|
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)
|
|
|
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)
|
rs1800113364
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.711_722del (p.Asp237_Thr240del)
|
rs2152005268
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_000322.5(PRPH2):c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC (p.Asn244fs)
|
rs2152005260
|
|
NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser)
|
rs1582764714
|
|
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)
|
rs61755816
|
|
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)
|
rs61755817
|
|
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
|
rs1582764697
|
|
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)
|
rs1800111659
|
|
NM_000322.5(PRPH2):c.743del (p.Arg248fs)
|
rs1800111486
|
|
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)
|
rs2152005248
|
|
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)
|
rs1458793437
|
|
NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser)
|
rs1458793437
|
|
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)
|
rs1458793437
|
|
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp)
|
rs2152005234
|
|
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)
|
rs1800110989
|
|
NM_000322.5(PRPH2):c.765_769del (p.Ser256fs)
|
rs1800110798
|
|
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)
|
rs1800110757
|
|
NM_000322.5(PRPH2):c.793dup (p.Met265fs)
|
rs1800110234
|
|
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)
|
rs1582764600
|
|
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)
|
rs62645935
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs)
|
rs1582764504
|
|
NM_000322.5(PRPH2):c.811del (p.Leu271fs)
|
rs1582764528
|
|
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG
|
rs2152005182
|
|
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)
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rs751900290
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NM_000322.5(PRPH2):c.828+2T>C
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rs1800108496
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NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)
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NM_000322.5(PRPH2):c.829-1G>A
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rs1582759782
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NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)
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rs62645938
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NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)
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rs1554268546
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NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)
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rs1799988458
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NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)
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rs61748430
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NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter)
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rs390659
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NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
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rs61748432
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NM_000322.5(PRPH2):c.917G>A (p.Trp306Ter)
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|
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NM_000322.5(PRPH2):c.934del (p.Val312fs)
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rs1799986608
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NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)
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rs1799986489
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NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
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rs1554268521
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NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)
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rs1799985749
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NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
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rs1582759492
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