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 T20S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Retrospective Non-randomized In-vivo Comparison of Different Levels of Femoral Rollback in the ATTUNE Total Knee Arthroplasiy System on the Basis of Fluoroscopic and Marker-based Motion Capture Evaluation.

Retrospective non-randomized in-vivo comparison of different levels of femoral rollback in the ATTUNE total knee arthroplasiy system (rotating platform CR high level roll back vs. rotating platform CR low level roll back) on the basis of fluoroscopic and marker-based motion capture evaluation. How do different levels of intra-operatively observed femoral rollback correlate to postoperative kinematics under weight bearing conditions? Does the modified design of the Attune Knee System influence the extent of the femoral rollback compared to the PFC Sigma Knee System? Does the femoral rollback maintain over a period of 12 months follow up or is it reduced by, for example, remodelling of the posterior cruciate ligament?

NCT02251535
Conditions
  1. Gonarthrosis
Interventions
  1. Device: ATTUNE® Knee System
  2. Device: PFC® SIGMA® Knee System
MeSH:Osteoarthritis, Knee
HPO:Knee osteoarthritis

Here, we use an infra-red optical motion capture system (10 T20S cameras, Vicon, Oxford, UK; system accuracy \-0.3-0.5 mm), tracked at120Hz, as well as 2 force plates (AMTI 0R6, Watertown, MA, USA) in order to assess the external forces while performing active movements. --- T20S ---

Primary Outcomes

Description: We intend to collect tibio-femoral anterior-posterior translation during active movement in order to analyse the different extent of femoral rollback (fluoroscopy and gait analysis including lunge activity) at 12 months post operative. Therefore, the femoral rollback will be classified to high level (l) and low level (ll) according to intraoperatively documented findings and postoperative radiographs.

Measure: tibio-femoral anterior-posterior translation

Time: at 12 months post operative

Secondary Outcomes

Description: We intend to collect the following secondary objective data pre operatively and '12 months post operative: - PKIP

Measure: quality of life

Time: at 12 months post operative

Description: We intend to collect the following secondary objective data pre operatively and '12 months post operative: - KOOS

Measure: quality of life

Time: at 12 months post operative

Description: We intend to collect the following secondary objective data pre operatively and '12 months post operative: - WOMAC

Measure: quality of life

Time: at 12 months post operative

Description: We intend to collect the following secondary objective data pre operatively and '12 months post operative: - SF 36

Measure: quality of life

Time: at 12 months post operative

2 Efficacy and Safety of E-cigarettes for Smoking Cessation in Middle-aged Heavy Smokers

Abstract Rationale. Electronic cigarette use is increasing at an exponential rate in Finland and internationally. The health consequences of vaporised aerosols in electronic cigarettes are largely unknown especially in a long run. Still, very few studies are available on quitting attempts with e-cigarettes as a smoking cessation tool compared to evidence based cessation pharmacotherapy in adult smokers who want to quit. Research Objective: To investigate effectiveness and safety of e-cigarettes for smoking cessation in middle-aged smokers, and to compare the effectiveness of them to varenicline. Our study provides new information of success in smoking cessation among heavy adult smokers for clinicians. Design: A double-blind, randomised, placebo-controlled clinical trial with the intervention phase of 12 weeks and the observational phase up to 52 weeks. This is an investigator initiated study. Setting: Volunteer middle-aged daily smokers, who were recruited through newspaper announcements. The majority of the cohort subjects (n=513)were recruited for our previous follow-ip study during years 2003- 2009, and many of them continued daily smoking during the whole follow-up period. Participants: In all, 450 adult heavy smokers, who want to quit smoking and are willing to participate up to 52 weeks´ follow-up. Intervention and procedures: Standardized self-reported questionnaires with detailed smoking history with assessment of motivation to quit smoking, parameters of nicotine dependence, symptoms will be included. Smoking status will be repeatedly reassessed during the study visits, and self-reported smoking abstinence is verified with exhaled-carbon monoxide (CO) assessment. All adverse side effects either of drugs or of e-cigarettes, and symptoms related to the drugs or to withdrawal from smoking will be carefully reported.

NCT03235505
Conditions
  1. Smoking Cessation
  2. Electronic Cigarette
Interventions
  1. Drug: Nicotine
  2. Drug: Varenicline Tartrate
  3. Behavioral: Motivational Interview

Each arm has 12 weeks intervention and observation up to 12 months: A.Nicotine containing e-cigarettes + placebo-pills + Motivational Interview (MI) Innokin Endura T20S + USB cable with wall adapter via USB cable (output DC5V)+ + 6x 10ml /month refill containing 18mg/ml nicotine with cigarette taste for 12 weeks. --- T20S ---

Participants are allowed to use ad libitum e-cigarettes during 12 weeks after they have chosen the quit day during the 2nd follow-up week Placebo -pills: starting week: 0,5mg once daily on days 1.-3 and 0,5mg twice daily on days 4.-5.Continuing weeks: 1mg twice daily up to 12 weeks B.Nicotine-free e-cigarettes + varenicline + MI Innokin Endura T20S + USB cable with wall adapter via USB cable (output DC5V)+ + 6x 10ml /month refill containing 0mg/ml nicotine with cigarette taste for 12 weeks Participants are allowed to use ad libitum e-cigarettes during 12 weeks after they have chosen the quit day during the 2nd follow-up week Varenicline (Chantix®) Starting week: 0,5mg once daily on days 1.-3 and 0,5mg twice daily on days 4.-5. --- T20S ---

Continuing weeks: 1mg twice daily up to 12 weeks C.Placebo-varenicline + nicotine -free e-cigarettes + MI Placebo -pills : starting week: 0,5mg once daily on days 1.-3 and 0,5mg twice daily on days 4.-5.Continuing weeks: 1mg twice daily up to 12 weeks Innokin Endura T20S + USB cable with wall adapter via USB cable (output DC5V)+ 6x 10ml /month refill containing 0mg/ml nicotine with cigarette taste for 12 weeks Participants are allowed to use ad libitum e-cigarettes during 12 weeks after they have chosen the quit day during the 2nd follow-up week --- T20S ---

Primary Outcomes

Description: 7-day point prevalence verified by exhaled-CO<10ppm

Measure: Smoking cessation during the follow-up visit at week 24

Time: 24 week

Secondary Outcomes

Description: 7-day point prevalence verified by exhaled-CO < 10pp

Measure: Smoking cessation at any other study visit

Time: Baseline,1, 12 and 52 week

Description: Prevalence of those who succeeded to decrease the number of daily cigarettes during the study

Measure: Reduce smoking at any study visit

Time: Baseline, 1,4 ,12,16, 24, 36 and 52 week


HPO Nodes