SNPMiner Trials by Shray Alag


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Report for SNP rs2089760

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 TGFB1 and LAMA1 Gene Polymorphisms in Turkish Children With High Myopia

The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications. Seventy-four children with high myopia (≥6 diopters [D]; study group) and 77 emmetropic children (±0.5D; control group) were included. Genetic and polymorphism analyses were performed in the Medical Genetics Laboratory using DNA purified from the patients' blood samples.

NCT03451877 High Myopia Gene Mutations Genetic: TGFB1 AND LAMA1 GENE POLYMORPHISMS
MeSH:Myopia
HPO:Myopia

evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia.

Primary Outcomes

Description: evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia

Measure: Genetic basis of high myopia

Time: 4 years


HPO Nodes


HP:0000545: Myopia
Genes 454
CACNA1F IFT52 COL2A1 SOX5 CSPP1 POMT2 COL1A1 COL5A1 COL2A1 ACOX1 MAP2K2 POMGNT1 ARR3 CYP4V2 SDHD SKI COL9A1 EFL1 PWRN1 RP1 ZNF469 KCNV2 SETD5 PACS1 DSE POLR3A ASXL1 HADHA CTNNB1 SLC2A10 EXOC6B MAP2K1 CABP4 LTBP2 NDUFB11 COL11A1 CHST14 SMS HDAC8 TCF4 NR2F1 ATP6V0A2 GPR179 TUB RAB28 VCAN ZSWIM6 NFIX POMT2 KMT2A NSD1 AKT1 COL1A2 BFSP2 KRAS FKRP VPS13B RECQL4 OPTN CACNA1F MIR140 GPAA1 FKTN COL9A1 PTEN GJC2 NYX GNPTG AEBP1 UCHL1 LTBP2 SH2B1 P4HA2 COL4A4 SLC24A1 BCL11B AGBL5 ANTXR1 CBS OAT MYOC DPYD LAMA1 SLITRK6 KDM5B SNORD116-1 RPL10 IPW MYO5A TIMM8A YME1L1 EPHA2 PTEN SMC3 GJA8 COL2A1 FBN1 SETD5 FBN1 SOX5 POMT1 NRAS SDHC SMC1A EED B3GLCT POMT1 HERC1 AGK FKBP14 ANKRD11 USP9X GJA1 IFT122 ZNF469 LRPAP1 CACNA1F SDHB PDE6B SAG GRM6 SCO2 TCF4 HACE1 SNORD115-1 VARS1 TWIST2 COL5A2 FKRP BTD SKI PLOD1 FBN1 ACSL4 GJA1 B3GALT6 LRP2 ALDH3A2 NT5C2 CRYBB1 POMK IFT43 PTEN PDZD7 POMT1 POLR3A RNF113A KDM5C AGK KCNE5 MAP2K1 RERE NBAS GRM6 LARGE1 ASXL1 FGFR3 BRAF PTEN PSMD12 FKRP ATAD3A RAI1 MAGEL2 CNGB3 ELN NONO WAC CBS PPP2R5D COL9A2 PMM2 USF3 LOX DNAJC21 B3GALNT2 LOXL3 COX7B FKTN DEAF1 FKRP AP1B1 EMC1 KLLN POMT2 ERCC2 HDAC8 CRYGD PRDM5 AMMECR1 COL2A1 C8ORF37 COL12A1 POMGNT1 NYX CRIPT BMP4 COL11A1 TRPM1 RFC2 ERBB3 ERCC3 CLDN19 ABCC6 NSUN2 GNB3 PUF60 CHMP1A POMT2 HTT PTPN11 CCNQ CLDN19 IGF1 THOC6 POMT2 GNB3 ADAMTS10 GMPPB IFIH1 FKTN AKT1 CRYBB2 GRK1 MKRN3-AS1 MBTPS2 COL2A1 TRAPPC11 FBN2 USP7 PIK3R1 WDR35 ATP6V0A2 HACE1 SMC3 PIGT COL4A5 NT5C2 BRAF ENPP1 RBM10 FBN1 LIMK1 ATRX TBL2 PAX2 UBE3B CLDN16 WDR19 KIF11 OCA2 TEAD1 CRYGC POLR3B TRNT1 CDC45 TAF1 SMARCAL1 COL11A1 COL18A1 USH2A PCYT1A GMPPB KIAA0586 ABCC6 FKTN COL2A1 GLRB HERC2 MC1R COL9A2 LARGE1 EIF2S3 TRAPPC11 ADAMTSL1 KIF11 EXOSC2 CYP1B1 POMT2 MAP2K2 RAI1 AFF4 LRIT3 LIG4 GMPPB KCNH1 GLE1 HS6ST2 ARCN1 COL18A1 RAD21 BBS1 COL2A1 SIM1 POMGNT1 TBC1D24 CLIP2 SEC23B LARGE1 ALDH18A1 DAG1 SLC39A5 OPN1MW RIN2 SETD5 POMGNT1 WDR19 NIPBL GTPBP2 AHDC1 XYLT2 ADAMTS10 ADAMTS2 FANCI NOTCH2 GPR179 POLR3B PRIMPOL MYO7A ATAD3A HSPG2 HSPG2 POMGNT1 BRAF CRYBA4 GTF2E2 CRYAA TRIT1 COL11A1 TBC1D24 FBN1 MED13L RPGR ADAMTS17 CHM UBE3B PIK3CA RMRP COL4A1 MAGEL2 LRIT3 RP2 GNAT1 POMT1 FLII RHO P3H2 MKRN3 GTF2H5 SON TARS1 TBC1D7 CHST14 CAMK2G GPR143 POLR1C PRDM5 CCDC28B BMP4 COL2A1 PIK3CA NDN AMMECR1 ZSWIM6 IQSEC2 ATP6V1A TCF20 MPLKIP MBD5 CRYBA2 CANT1 AKT1 USP9X IRX5 TULP1 TRPM1 OPN1LW MAF TCF4 B3GALNT2 POMT1 LRP2 GTF2I WHRN COL2A1 PLOD3 TFAP2B POLR3A EMC1 SLC12A6 P4HTM ARID1B COL5A1 JAG1 MYOC PACS2 COL2A1 TTC8 GPAA1 CASK TFAP2A TYR COL4A3 GZF1 B3GALT6 WDR26 IFT122 ZNF644 SNRPN KLHL7 PWAR1 LAMA1 POGZ NPAP1 ELP1 BAZ1B CACNA1F ADGRV1 RPL10 COL9A3 COL11A1 ELOVL4 FKRP FKBP14 XYLT1 COL4A3 VPS13B KRAS CACNA2D4 BLOC1S3 ADAMTSL4 ATP6V0A2 COL2A1 FBN1 C12ORF57 COL2A1 SLC25A4 LTBP2 PLOD1 NONO MSX2 POGZ BPTF HUWE1 OAT TMEM94 NIPBL UBE3A ZNF408 SMS GTF2IRD1 COL11A1 ATP6V1E1 LAMB2
Protein Mutations 0