SNPMiner Trials by Shray Alag

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Report for SNP rs7961953

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients Patients, A Single-nucleotide Polymorphism(SNP)Analysis for Primary Open Angle Glaucoma

A single-nucleotide polymorphism (SNP) analysis of DNA obtained from peripheral blood of the glaucoma patients and the normal control will be performed to find genetic marker for primary open angle glaucoma.

NCT01025024 Single-nucleotide Polymorphism (SNP) for Glaucoma Genetic: SNP analysis of the DNA
MeSH:Glaucoma Genetic Diseases, Inborn
HPO:Glaucoma

genotyping for rs7961953 and additional SNPs in TMTC2 from other linkage disequilibrium patterns.

Primary Outcomes

Measure: genotyping for the SNP associated with primary open angle glaucoma

Time: one year

Secondary Outcomes

Measure: genotyping for rs7961953 and additional SNPs in TMTC2 from other linkage disequilibrium patterns

Time: one year

HPO Nodes

HP:0000501: Glaucoma
Genes 395
LIMK1 POMT1 PTEN REEP6 PRPF6 KIAA1549 ARL6 LARGE1 ELN OPTN PITX2 OVOL2 PRSS56 COL2A1 GNAQ COL2A1 ZEB1 TTC37 FUT8 GRHL2 RDH12 HCCS PEX1 ZNF408 PAX6 FKTN PTCH1 RHOA NCAPG2 CRYBA2 ZSWIM6 PEX6 AGK CYP1B1 GJA1 TEK COL2A1 NLRP3 AGK GJA1 CHST14 SLC7A14 LTBP2 MYMK PEX10 ESCO2 NF1 PTCH2 AGBL5 POMGNT1 BCOR MAG TREX1 SUFU RAD21 BUB3 PITX2 PAX6 NOD2 ARVCF BEST1 PITX2 COL11A1 CRX MYOC GZF1 TRIM44 PEX12 MASP1 DSE CYP1B1 ARSB RBP3 COL4A1 CNGB1 ZNF513 WFS1 CISD2 PTPN22 B3GLCT IFT140 RNASEH2B FGFR2 LRP5 OCRL PXDN OFD1 CLN3 LMX1B SMC1A PEX1 ARL6 GTF2IRD1 UFD1 COL8A2 CDHR1 SH3PXD2B WT1 PEX14 CEP57 CNGA1 DHDDS RFC2 CDH11 ADAMTS10 GJA1 KIZ FOXC1 PAX6 FOXC1 IDUA PRPF8 EP300 B3GALNT2 NEK2 MAK CLIP2 BBS2 COMT POMT2 CRYAA HLA-DRB1 NHS CRPPA SKIV2L TWIST1 JMJD1C GLIS3 WDR36 FREM2 TBC1D20 ABCA4 C8ORF37 FLNA HIRA ADAR AKT1 MYOC IFIH1 RXYLT1 CERKL NRL SRY GJB4 WFS1 CREBBP WT1 GJB3 TIMP3 PROM1 PIK3R1 FKTN BUB1B CRPPA OVOL2 IDUA GSN IMPDH1 ADAMTS10 B3GAT3 PRCD PLK4 VCAN FOXE3 PRPF4 NTF4 CA4 FBN1 TUB PIK3C2A RNASEH2C PEX13 TTC8 PIK3R1 BEST1 SBF2 NR2E3 PTCH2 TBX1 B4GAT1 CCBE1 CYP1B1 BUB1 DAG1 KMT2A YAP1 BDNF DCN PCARE TKFC COL5A2 CYP1B1 ATR TRAIP VSX1 GNAQ SEC24C TEK HGSNAT PTCH1 ARHGEF18 PEX2 RP1 RECQL4 CLRN1 AHR HDAC8 SIX6 RASA1 RRM2B DHCR7 PRDM5 CHRDL1 ASB10 LTBP2 CEP152 CHST14 PEX16 FKRP BEST1 GUCA1B PDE6G CRB1 CCDC28B YARS2 COX7B PYCR1 NIPBL B3GLCT TOPORS NOD2 IDH3B PLOD1 POMGNT2 PUS1 SCAPER CANT1 PEX5 ARL2BP GNAQ RREB1 COL11A1 CRYBB3 PDE6B TMEM98 SAMHD1 PEX26 LOXL1 TRIP13 ATOH7 PITX2 PRPF3 SMC3 PEX19 SPATA7 FKTN CYP1B1 ZNF469 FBN1 POMGNT1 WFS1 BCOR CYP1B1 RPGR POMGNT1 LARGE1 LTBP2 LMX1B POMT1 TRIM44 FKRP FOXE3 PCNT NAA10 BAZ1B VHL CCBE1 NDP AHI1 BCOR SAG POMT2 EXOSC2 GMPPB EBP GP1BB POMT1 NDP MYOC CENPE MAF FBN1 SLC4A4 CHST3 SLC25A4 PEX11B ACVR1 EYS RGR ADAMTS17 GTF2I DHX38 OCRL IDH3A FKRP ATRIP RNU4ATAC RHO ANTXR1 COL4A1 RP9 LTBP2 KLHL7 DDX58 CBS PAX6 LARGE1 RLBP1 CENPJ ADAMTS3 COL5A1 BTNL2 PAX6 FOXC1 IDUA FBN1 IFIH1 TBX1 ADAMTSL1 USH2A NHS XYLT1 WASHC5 RP2 SETD5 RS1 POMK CCDC22 IFT172 PLOD1 KIF11 FOXC1 BBS1 FAM161A COL1A1 RPE65 PRPH2 ROM1 DAG1 TBL2 RBBP8 MAFA KDSR FBN1 SEMA4A ARL3 LRAT CANT1 POMT2 TULP1 SNRNP200 IFT88 FSCN2 STUB1 MERTK FKTN RNASEH2A CBS HLA-DRB1 B3GALNT2 PEX3 COL11A1 IMPG2 POMGNT1 ZSWIM6 FAS IDUA FOXC1 NDUFB11 POMT2 ANKLE2 PRPF31 TEK MAB21L1 MFRP RPS19 TGFB1 FAT4 ANTXR1 LTBP2 PDE6A SUFU PITX2 CRB1 COL3A1
Protein Mutations 8
A119S D565H L432V R272G R368H R48G R76K T377M
SNP 1
rs7961953