SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs78408340

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Defining the Physiological Mechanisms of Risk Genes for Hyperglycaemia, Insulin Resistance and Type 2 Diabetes

Recent genetic association studies have identified variants in the Peptidyl-Glycine alpha-amidating mono-oxygenase (PAM) gene that increase the risk of diabetes likely through a defect in beta-cell function. This has been followed up and supported by novel kinetic assays and cellular studies. This investigation will recall heterozygous carriers of the risk allele at rs78408340 and age, BMI and gender matched controls from the Oxford Biobank. The study will compare the incretin effect, glucagon-like peptide-1(GLP-1), insulin, glucose levels and PAM protein activity in individuals both with and without the risk variant. The aim of the study is to gain mechanistic insight into the effect of the variant on human physiology and diabetes pathogenesis.

NCT02723110
Conditions
  1. Type 2 Diabetes
Interventions
  1. Other: 4 Hour Frequently Sampled Oral Glucose Tolerance Test
  2. Other: Isoglycaemic Clamp
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2 Insulin Resistance Hyperglycemia
HPO:Diabetes mellitus Hyperglycemia Insulin resistance Postprandial hyperglycemia Type II diabetes mellitus

This investigation will recall heterozygous carriers of the risk allele at rs78408340 and age, BMI and gender matched controls from the Oxford Biobank.

Primary Outcomes

Description: Will be calculated from the amount of IV glucose required to reproduce OGTT glycaemic profile

Measure: Calculated Incretin Effect

Time: 3 months

Secondary Outcomes

Measure: Insulin concentration

Time: 3 months

Measure: Glucose concentrations

Time: 3 months

Measure: GLP-1 (glucagon-like peptide-1) amidated and unamidated concentration

Time: 3 months

Description: This assay is based off the protocol in the published literature, and is based on the turnover of radio-labelled substrate to quantify the amidating ability of the PAM enzyme

Measure: PAM enzyme activity assay

Time: 3 months


HPO Nodes


HP:0000819: Diabetes mellitus
Genes 567
LHX1 BLK MERTK PROK2 UBR1 MTHFR MAGEL2 UBR1 NODAL ND6 NDUFS4 RETN TRNL1 MAGEL2 TRNK POLA1 GTF2IRD1 TRNC SLC7A14 RP1 HNF1A CTRC CAVIN1 BRAF RTL1 BBS1 FGFR1 PDE6A CNGB1 LIPE ZNF408 HNF1B TRNS2 GCK HNF4A SHH CTNNB1 BMP2 HYMAI DCAF17 PTF1A TOPORS CFTR KCNJ11 OCA2 SPINK1 ENPP1 AMACR MTNR1B ND1 TCF4 RBP3 ELMO2 PRSS1 SAG MAPK8IP1 PAX4 TP53 NDN FUZ DLL1 PROKR2 RTL1 PCNT SIM1 CLIP2 ABCC8 ELN KCTD1 PIK3R1 TTC7A IRS2 IGF1R GNAS EDA2R ABCC8 PIK3R1 OFD1 PLIN1 CNBP PEX10 COX1 ELN KLF11 SLC19A2 TULP1 LMNB2 PEX6 AKT2 NDUFV2 NDUFAF5 HFE GLIS3 SNRNP200 INS FOXP3 HMGA1 LIPE TRMT10A XRCC4 NEUROD1 HESX1 PTRH2 MTHFR PDE4D NSMCE2 GLRX5 HAMP HNF1B TRNW NPAP1 PPARG SUFU RP9 IFT88 IRS1 RHO PLAGL1 BLM TDGF1 PRSS1 AKT2 PDX1 TRNW ARL3 RPGR HNF4A GPD2 LMNA PDE6B USB1 MEG3 NDUFB10 SNORD115-1 ZNF513 DNAJC21 WFS1 XRCC4 SOX3 SLC25A4 IL2RA RLBP1 NDUFA11 MKRN3-AS1 PRKAR1A NDUFS3 HJV TKT FAM161A GCK LIG4 ROM1 GJA1 TRNS1 TRNH BLM COX1 SNRPN TTC8 PDE8B AGPAT2 TREX1 TINF2 LMNA AIP DCAF17 ND2 IFIH1 BRCA1 IDH3B DNM1L PDE4D GJB4 USP8 BEST1 PWRN1 GATA6 IPW RP2 ND1 GATA6 ARNT2 SLC19A2 APPL1 ND4 PDX1 FOXRED1 TRNF STAT1 INSR IMPDH1 GATA3 SLC2A2 DHDDS EIF2S3 IL6 CNOT1 HLA-DRB1 GPR101 PPARG TRNQ GCK RPE65 ATP6 SNRPN ZBTB20 CISD2 TRNS1 INS CAT SPATA7 RAC1 NDUFB11 HNF4A PALLD RNASEH2B TRNE XRCC4 NDUFAF8 ARHGEF18 STAT1 CYTB LIPC GCK EDA HBB MMP2 OCA2 ZFYVE26 FOXP3 TRNF KLHL7 ALMS1 CP SEMA4A USH2A FGF8 SBDS HBB CERKL INS CYP19A1 APPL1 RNASEH2A TRNS2 ZFP57 GJA1 CDON TIMMDC1 FGFR1 POLR3A AGPAT2 MAGEL2 HNF4A ZFP57 ND1 FOXH1 PRPF8 IARS1 SPINK1 PAX4 HNF1A NDUFAF3 GAS1 CDHR1 NPM1 STUB1 PWAR1 CPA1 KCNJ11 EYS HNF1A IL18BP DISP1 PDX1 VANGL1 CEP19 POLG2 CARS1 CLRN1 HNF1B NDN MKRN3 KCNJ11 BSCL2 OCA2 ZIC2 SRP54 CAV1 CFTR DHX38 IFT172 PPARG FXN WRN PLIN1 INSR WRN NDUFB9 WFS1 DLK1 MMP14 LEP PTPN1 ARL2BP PRCD EIF2AK3 CIDEC ITCH PRPH2 CDH23 NEK2 ATM PTRH2 TTPA SLC29A3 NDN NKX2-5 PDE11A NDUFS8 REEP6 AGBL5 ZMPSTE24 PROM1 NDUFS6 TRNK AEBP1 PRSS2 LEPR TBL2 BBS2 COL2A1 LRP6 GCK POC1A PDX1 CTNS CORIN PNPLA2 IFT140 PPP1R15B FOXP1 RFC2 CTRC NDUFS1 LMNA PTPN22 SNORD116-1 LEPR RNASEH2C RRM2B LIMK1 BLK NOTCH3 HMGA2 TWNK CNOT1 FLT1 NEUROD1 KCNJ11 ABCA4 IDH3A CDKN2A NDUFA6 KIZ ABCC8 ATM BRCA2 ND6 NDUFS2 LMNA ND3 IMPG2 MST1 TGIF1 PAX4 WFS1 KCNJ11 FXN NOP10 KDSR MEG3 OPA1 TRNQ TUB HYMAI CISD2 DNAJC3 STOX1 IL2RA NDUFS7 NDUFA1 NUBPL BSCL2 PEX1 COX2 SPINK1 PAX4 RTEL1 INS NDUFB3 COX3 CASR SMAD4 GCK ITPR3 SNRPN HBB POLG NDP OTX2 SLC12A3 TRNE PNPLA6 APOA5 LMNA GCK STAT3 POMGNT1 PDE6G WFS1 GLI2 CLCNKB ALMS1 AHI1 LEMD3 HNF1A BBS2 GJB3 ABCC8 TP53 ITCH RP1L1 PLAGL1 LMNA PALB2 NDUFAF2 CRB1 CNGA1 DMPK PPP1R3A PNPLA2 PTCH1 WRAP53 STAT3 SAMHD1 HYMAI NDUFV1 HGSNAT HNF1B HNF4A SLC29A3 ARMC5 CCDC28B KRAS GTF2I MAGEL2 TWNK HNF1A PRPF3 VANGL2 GUCA1B TMEM126B EIF2AK3 TRNV TERT KCNJ11 PTF1A FBN1 IGF2BP2 ARL6 COX2 HFE AIP NR2E3 PCARE MAK KCNJ11 HLA-DQB1 ABCC8 NDN PLCD1 NDUFAF4 POLD1 CEL VANGL2 NSMCE2 PSTPIP1 SOX2 SIX3 ND5 TCF7L2 NEUROG3 MKKS CAV1 SMPD4 SLC16A2 PDX1 FSCN2 PRKACA CA4 MC4R TRNL1 PRKACA CTC1 ADA2 PRSS2 SNRPN RGR AHR DMXL2 PRPF4 KLF11 ADAR SARS2 MOG MEN1 HERC2 CP ND5 INSR LRAT MAFA EFL1 HNF1A TERC FOXC2 SCAPER FOS CRX DLK1 KIAA1549 MAGEL2 MLXIPL DNAJC3 PRPF31 AIRE PRPF6 PARN DKC1 NEUROD1 APOE PPARG WFS1 ABCC8 LRBA AR NRL NHP2 GPR35 BAZ1B RDH12 ERGIC1 ARL6 NDUFAF1 SLC30A8 PDX1 COX3 ABCC8 INS C8ORF37 IER3IP1 PRKAR1A KCNJ11 CEL INS TRNL1