SNPMiner Trials by Shray Alag

L858R (324) T790M (316) V600E (256) T315I (102) L861Q (92) M184V (67) V617F (54) G20210A (53) K65R (52) V600K (51) C282Y (50) V66M (49) G551D (42) P13K (39) C677T (34) A118G (29) I84V (27) V158M (26) H63D (25) V32I (24) S768I (24) I50V (23) I47V (21) K103N (21) Y181C (20) L33F (19) K27M (19) T380A (18) L76V (18) D842V (18) D816V (17) S1251N (17) S1255P (17) G178R (17) G1244E (17) S549R (17) G1349D (17) V82A (16) R117H (16) M41L (16) S549N (16) G12C (16) C3435T (16) G551S (16) Q151M (16) Q12H (15) K219Q (15) I54L (15) G719A (14) K70E (14) C797S (14) L90M (13) L74V (13) E138A (13) D67N (13) K70R (13) L89V (13) L210W (13) Y188L (13) P4503A (12) G11778A (12) L265P (12) M46I (12) I54M (12) G12D (12) V11I (12) R132H (12) G48V (11) D961H (11) T74P (11) R192G (11) E255K (11) V299L (10) K101E (10) G2677T (9) T25W (9) V106A (9) G12V (9) M184I (9) H221Y (9) V30M (9) V600D (9) G1691A (8) F227C (8) T215Y (8) I50L (8) A1298C (8) L100I (8) Y253H (8) F317L (7) N155H (7) S298P (7) G190A (7) M230I (7) C1236T (7) V600R (7) Y188C (7) G2019S (7) P225H (6) Y93H (6) F359C (6) V108I (6) A3243G (6) G73S (6) P12A (6) Y115F (6) E545K (6) Q148H (6) Y537S (6) E542K (6) I10A (6) M230L (6) H1047R (6) N40D (6) D299G (6) D30N (6) M235T (6) D538G (6) Q12W (5) I148M (5) T87Q (5) I47A (5) L74I (5) E92Q (5) N680S (5) G93A (5) A455E (5) M204V (5) D1152H (5) L755S (5) G13D (5) G190S (5) N363S (5) A181V (5) V179L (5) L24I (5) N88S (5) A2143G (5) T399I (5) M36I (5) F53L (5) T315A (5) R263K (5) R132C (5) V777L (5) T1405N (4) D579G (4) G719C (4) N370S (4) R117C (4) Q16W (4) L98H (4) A98G (4) K20M (4) E138G (4) E138K (4) L31M (4) E157Q (4) L10F (4) Q80K (4) C31G (4) L206W (4) P140K (4) I54V (4) K76T (4) Y537C (4) I1314L (4) S945L (4) Y402H (4) P1446A (4) V179D (4) N88D (4) A6986G (4) N236T (4) A1166C (4) G970R (4) Y181I (4) R352Q (4) G2385R (4) S310F (4) P67L (4) R1070W (4) G140A (4) E23K (4) S463P (4) T14484C (3) G719S (3) R206H (3) S1400A (3) S1400I (3) A71V (3) C134W (3) R24W (3) C481S (3) T24H (3) V122I (3) T47D (3) A636P (3) S977F (3) G118R (3) G3460A (3) N312S (3) G1202R (3) D988Y (3) Q252H (3) L444P (3) V659E (3) V769L (3) A147T (3) E10A (3) L861R (3) R678Q (3) Q27E (3) E17K (3) Q148R (3) A1555G (3) S49G (3) Y537N (3) R16G (3) I10E (3) V158F (3) G21210A (3) K55R (3) V205C (3) Y181V (3) A2142G (3) R506Q (3) E298D (3) L211A (3) R172K (3) V843I (3) Y143R (3) R572Y (3) G143E (3) G1321A (3) V842I (3) H295R (3) G140S (3) T60A (3) P23H (3) F11N (2) S1009A (2) H275Y (2) T733I (2) F1074L (2) I1307K (2) G250E (2) S77Y (2) E28A (2) E28C (2) E28D (2) T66A (2) S1400C (2) S1400E (2) S1400D (2) D1790G (2) L833F (2) S1400G (2) S1400F (2) R334W (2) L8585R (2) I105V (2) N375S (2) V560G (2) T20S (2) T69D (2) T69S (2) Y93C (2) E138R (2) E138Q (2) F359V (2) R776H (2) Q422H (2) D110H (2) D110E (2) R753Q (2) R404C (2) C283Y (2) L31F (2) S252W (2) L460D (2) L33I (2) R140W (2) R140L (2) R140Q (2) V106I (2) V106M (2) E709K (2) P50I (2) V697L (2) P535H (2) P51S (2) G1314A (2) S492R (2) G308A (2) G71R (2) T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) L536R (2) L536Q (2) L536P (2) A143T (2) C19P (2) T97A (2) G3556C (2) Q24W (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) G193E (2) F876L (2) R479H (2) Q28D (2) G190E (2) R347H (2) K601E (2) G16R (2) R831C (2) G5271C (2) V75I (2) G681A (2) A270S (2) L63P (2) L869R (2) P236L (2) R831H (2) T13D (2) H1047L (2) C3670T (2) V34L (2) E255V (2) G469A (2) V57I (2) L144F (2) M233I (2) C825T (2) C8092A (2) G776C (2) G776V (2) F121Y (2) R172S (2) R172W (2) R172M (2) Q192R (2) R172G (2) E380Q (2) Y121F (2) K101P (2) R61C (2) V600M (2) F31I (2) K540E (2) K103H (2) R132V (2) D1270N (2) R1628P (2) R132S (2) V534E (2) R132G (2) R132L (2) K238N (2) G4655A (2) S112A (2) I84A (2) Y129S (1) G1388A (1) S77F (1) R20A (1) V140A (1) C686A (1) I1768V (1) E25K (1) K652E (1) C420R (1) S9304A (1) R337H (1) C421A (1) V189I (1) K304E (1) A7445G (1) D19H (1) L304P (1) Q36W (1) Y454S (1) A133S (1) M9T (1) P596L (1) E318D (1) C1156Y (1) N171K (1) A7445C (1) V82F (1) G47A (1) R447H (1) G47E (1) V82L (1) R776C (1) A92T (1) E27Q (1) F1052V (1) P27A (1) A289T (1) L523S (1) H54Y (1) T1095C (1) S428F (1) R400C (1) D313Y (1) Q12M (1) R139C (1) A393T (1) W719R (1) T66K (1) T862I (1) T66I (1) G49A (1) R48G (1) H58C (1) I104F (1) D203E (1) K656E (1) T40S (1) D312N (1) G276T (1) L747P (1) R200W (1) L747S (1) I1171N (1) Q14D (1) S1400K (1) R115G (1) F17L (1) A71T (1) S339F (1) A71L (1) F317V (1) F317S (1) G20201A (1) F317C (1) G2545R (1) C377T (1) S9346A (1) P243R (1) R25L (1) L528M (1) Q222R (1) I22M (1) I107M (1) C1858T (1) L859R (1) G2032R (1) A859S (1) G389D (1) V148I (1) K65E (1) V148G (1) C242T (1) G389R (1) H369P (1) A98S (1) G2500A (1) I349V (1) I107V (1) V561D (1) C481R (1) L833V (1) P200T (1) G1051A (1) Y93F (1) Y414C (1) Y1248H (1) K65N (1) L74M (1) P4502C (1) Y1248C (1) Y1248D (1) F227R (1) V89L (1) T164I (1) G1628A (1) A2215D (1) C94A (1) H1124D (1) E200K (1) F227L (1) I305F (1) N682S (1) T1010I (1) I655V (1) R885H (1) G7444A (1) R776G (1) E354Q (1) A21443C (1) R620W (1) A54T (1) D594G (1) T49A (1) F116Y (1) H870R (1) G205S (1) R535H (1) I767M (1) L55M (1) E571K (1) L55R (1) M2540A (1) E92K (1) G238A (1) L838P (1) E6V (1) L814P (1) K509I (1) V21I (1) G699A (1) V167F (1) L33P (1) M66V (1) D61804R (1) R849W (1) V762A (1) D816H (1) V326L (1) V108M (1) L58H (1) V411L (1) E158K (1) N334K (1) A1067T (1) S1800A (1) G894T (1) G202A (1) C282T (1) I191V (1) G435A (1) K1060T (1) A10H (1) R272G (1) V654A (1) V106T (1) C1091T (1) I638F (1) P317R (1) V433M (1) S230R (1) R4E (1) N550H (1) P1058A (1) N550K (1) E709Q (1) G304A (1) T124A (1) S253N (1) G1316A (1) M552V (1) M552I (1) R182H (1) D835V (1) A871E (1) D835Y (1) A677G (1) C1950G (1) H1505R (1) A893S (1) L597Q (1) S2808A (1) N55H (1) K28M (1) D89E (1) L485W (1) M9346A (1) L159F (1) A437G (1) R92Q (1) V29C (1) L38V (1) G135C (1) A677V (1) C34T (1) G93R (1) R270H (1) V321A (1) C10D (1) R122W (1) G308V (1) H2507Q (1) D20W (1) G309A (1) G309E (1) G721A (1) I90P (1) C59R (1) C416R (1) G71A (1) Q61R (1) Q61L (1) H835L (1) R498L (1) V941L (1) Q62E (1) R389G (1) D769N (1) G156A (1) E1784K (1) G98T (1) Q65E (1) T92A (1) S239D (1) C656G (1) R451C (1) G73C (1) G5665T (1) R72P (1) F64L (1) L248R (1) M204I (1) R149S (1) A105G (1) M28L (1) D769Y (1) V769M (1) R75T (1) E193K (1) T890M (1) P250R (1) P58A (1) L532S (1) S147G (1) S1235R (1) T454A (1) K660E (1) R76K (1) L1213V (1) V742I (1) V1238I (1) R74W (1) T102C (1) K3048A (1) T93M (1) D961S (1) G1269A (1) R277W (1) P187S (1) A561P (1) Q20W (1) V740A (1) T783I (1) T674I (1) S8814A (1) T783A (1) V90I (1) C325G (1) Q188R (1) R30H (1) C785T (1) S100A (1) R496L (1) G174S (1) P11A (1) L798F (1) V765A (1) G1049R (1) C18S (1) L798H (1) V765M (1) R230C (1) S366T (1) G1376T (1) S65D (1) A277G (1) T1191I (1) L755A (1) T878A (1) H131R (1) T854A (1) P253R (1) C1494T (1) L755P (1) P120H (1) E525K (1) C102T (1) Y1253D (1) G196A (1) K70N (1) A145T (1) L861G (1) H43R (1) I76V (1) C344T (1) R677W (1) S9313A (1) F1174V (1) I112T (1) G10V (1) R10C (1) F1174L (1) R10A (1) K860I (1) R34P (1) F1174C (1) R108K (1) I112M (1) I332E (1) V151I (1) S1369A (1) R32Q (1) N409S (1) C563T (1) Q24H (1) I113T (1) D761Y (1) Y114C (1) N291S (1) G34A (1) G1069R (1) V151A (1) R896C (1) S567L (1) A827G (1) G12S (1) I54T (1) D565H (1) Y113H (1) P367L (1) R102G (1) R368H (1) M3002A (1) P125A (1) V282M (1) E545G (1) M1040E (1) E545A (1) G398A (1) E545D (1) L409P (1) S1787N (1) G12A (1) S784P (1) L841V (1) R14C (1) S9333A (1) V943A (1) Q148K (1) Q148E (1) M1043I (1) Y220C (1) T416P (1) A3669G (1) R38H (1) T961C (1) T961G (1) L84F (1) V1110L (1) E326K (1) S108N (1) C365Y (1) A719G (1) D237E (1) G37R (1) D104N (1) S653C (1) S786I (1) V834I (1) Y376C (1) G3514C (1) G594A (1) G1947A (1) G190C (1) V834L (1) Q546R (1) F522C (1) Q546L (1) Q546K (1) P699S (1) F2004L (1) D101H (1) T393C (1) A1330T (1) R988C (1) H48Q (1) T174M (1) A62V (1) A62T (1) L84V (1) M165I (1) V222A (1) P479L (1) Y318F (1) G908R (1) V75M (1) D101Y (1) I10F (1) D90V (1) H1112L (1) V30A (1) R3500Q (1) S282R (1) D919G (1) I665V (1) H1112Y (1) D90A (1) C385A (1) M95L (1) G1170S (1) V244M (1) G17T (1) S26E (1) N251K (1) G464V (1) C807T (1) V77I (1) Y449D (1) D4064A (1) C168H (1) Q215S (1) M50I (1) K56M (1) F106C (1) G465R (1) G598V (1) S769N (1) E586K (1) T1482I (1) L1196M (1) E148Q (1) T12W (1) S720P (1) Y641S (1) S768R (1) F129L (1) Y641N (1) C938A (1) C165V (1) R19C (1) C383R (1) Y641H (1) Y641F (1) C805S (1) W64R (1) Y641C (1) H1047Y (1) M1268T (1) A736V (1) C61G (1) P1009S (1) V481F (1) S1612C (1) Q546E (1) L718P (1) V179F (1) M1002A (1) G106R (1) P300D (1) S131F (1) W21C (1) L144S (1) M1149T (1) H558R (1) S373C (1) A69S (1) V774A (1) T377M (1) V689M (1) V774M (1) D164V (1) R199W (1) N86S (1) N86Y (1) G11053T (1) R175H (1) T17M (1) Y86N (1) A2144G (1) N345K (1) A2059G (1) D50W (1) I180V (1) A864V (1) L24E (1) V118I (1) G212S (1) I843S (1) N1303K (1) R1623Q (1) A1033V (1) L1198F (1) N1325S (1) V773M (1) Q812R (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G211A (1) D76Y (1) G1631D (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) A2143C (1) L101I (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) T1456G (1) R702W (1) T1565C (1) E1021K (1) K15210D (1) G82S (1) G779C (1) G840A (1) G779F (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) H180Q (1) L28P (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) R352W (1) G60D (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) L432V (1) V736A (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) G86R (1) Y143H (1) Y143C (1) R112H (1) Y143A (1) A227G (1) K101Q (1) R463C (1) G85E (1) L236P (1) A310V (1) T798M (1) S310Y (1) R222C (1) A4917G (1) T798I (1) E44D (1) L302P (1) Q30R (1) L786V (1) R287Q (1) P286R (1) D36Y (1) R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) A5147S (1) P46L (1) N700D (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) T81C (1) C316N (1) R1070Q (1) T1304M (1) I167V (1) I82A (1) Q54H (1) D13H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) L106V (1) A222V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) P392L (1) C1895T (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A270S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Genetic Basis for Variation in the Renal Elimination of Metformin

The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. We will study individuals with particular genotypes of the human organic cation transporter, (hOCT2), to test the hypothesis that genetic variation in hOCT2 is associated with variation in the renal clearance of the antidiabetic agent, metformin.

NCT00187720
Conditions
  1. Other Conditions That May Be A Focus of Clinical Attention
Interventions
  1. Drug: Metformin

In recent studies, we identified four variants (M165I, A270S, R400C, and K432Q) with ethnic-specific allele frequencies ≥1% [6] that have altered function in studies in heterologous expression systems. --- M165I --- --- A270S ---

In addition, we identified a common haplotype of hOCT2 and one haplotype that contain the non-synonymous cSNP, A270S. --- A270S ---

Primary Outcomes

Description: To test whether individuals with genetic variants of the human organic cation transporter, OCT2, exhibit altered renal elimination of metformin we will measure the difference in renal clearance between reference and variant groups.

Measure: Renal Clearance of Metformin

Time: 0, 0.5, 1, 2, 3, 4, 6, 8, 10, 12 and 24 hours

2 A Pharmacokinetic Evaluation of Metformin in Relation to the Polymorphism A270S in Healthy Caucasian Volunteers.

The aim of the study is to evaluate the pharmacokinetics of metformin in healthy Caucasians volunteers with and without the polymorphism A270S in OCT2,thus the study hypothesis is that renal clearance of metformin is affected in Caucasian with the known single nucleotide polymorphisms A270S in OCT2.

NCT01237522
Conditions
  1. Metformin
  2. Organic Cation Transporter 2
  3. Polymorphism,Single Nucleotide
Interventions
  1. Drug: Metformin

A Pharmacokinetic Evaluation of Metformin in Relation to the Polymorphism A270S in Healthy Caucasian Volunteers.. --- A270S ---

A Pharmacokinetic Evaluation of Metformin in Relation to the Polymorphism A270S in Healthy Caucasian Volunteers The aim of the study is to evaluate the pharmacokinetics of metformin in healthy Caucasians volunteers with and without the polymorphism A270S in OCT2,thus the study hypothesis is that renal clearance of metformin is affected in Caucasian with the known single nucleotide polymorphisms A270S in OCT2. --- A270S ---

A Pharmacokinetic Evaluation of Metformin in Relation to the Polymorphism A270S in Healthy Caucasian Volunteers The aim of the study is to evaluate the pharmacokinetics of metformin in healthy Caucasians volunteers with and without the polymorphism A270S in OCT2,thus the study hypothesis is that renal clearance of metformin is affected in Caucasian with the known single nucleotide polymorphisms A270S in OCT2. --- A270S --- --- A270S ---

A Pharmacokinetic Evaluation of Metformin in Relation to the Polymorphism A270S in Healthy Caucasian Volunteers The aim of the study is to evaluate the pharmacokinetics of metformin in healthy Caucasians volunteers with and without the polymorphism A270S in OCT2,thus the study hypothesis is that renal clearance of metformin is affected in Caucasian with the known single nucleotide polymorphisms A270S in OCT2. --- A270S --- --- A270S --- --- A270S ---

Primary Outcomes

Measure: Renal clearance of metformin

Time: 24 Hours


HPO Nodes