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Report for SNP rs2246704

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Relationship of YWHAH Polymorphisms to Rheumatoid Arthritis Disease Severity

It is hypothesized that one or several of these 6 single nucleotide polymorphisms (SNPs) (rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, and rs933226) in the YWHAH gene could be related to RA disease severity.

NCT03190746 Rheumatoid Arthritis Diagnostic Test: TaqMan SNP analysis
MeSH:Arthritis Arthritis, Rheumatoid
HPO:Arthritis Polyarticular arthritis Rheumatoid arthritis

Relationship of YWHAH Polymorphisms to Rheumatoid Arthritis Disease Severity It is hypothesized that one or several of these 6 single nucleotide polymorphisms (SNPs) (rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, and rs933226) in the YWHAH gene could be related to RA disease severity.

Six YWHAH single nucleotide polymorphisms (SNPs) were identified in a prior study: rs2246704, rs2853884, rs3747158, rs4820059, rs7291050, and rs933226.

rs2246704 was associated with bipolar disorder (Odds Ratio (OR) 1.31, p=0.03) and psychotic BP (OR 1.66, p=0.002).

Primary Outcomes

Description: The primary endpoint was the relationship of the six YWHAH SNPs to RA disease severity as based on the presence (1 point) or absence (0 points) across several domains: (A) serologic status (positive anti-CCP = 1 point, for example), (b) erosive changes (presence of erosions = 1 point), and (c) extra-articular manifestations (presence = 1 point).

Measure: Relationship to RA disease severity

Time: 2.5 years


HPO Nodes


HP:0001369: Arthritis
Genes 263
CCN6 IL2RA NFKBIL1 LBR SPTB BLNK TRAPPC2 EPB42 MVK CD79A IL36RN COMP STAT3 IL2RB TGFB3 MEFV IL12A-AS1 CASP10 MLX MMP13 SLCO2A1 COL2A1 COL2A1 ASAH1 IGHM COL2A1 APOE HNF4A COL2A1 ADA2 PTPN22 MMP14 NOD2 CD247 BTK SCARB2 COL2A1 GLA UMOD CCR1 COL11A2 LRBA CCR6 COMP EXT1 IL6 RREB1 KLRC4 COL11A1 PTPN22 PSTPIP1 HNF1B SAMHD1 HLA-C COL11A2 LRP6 GPR101 COL2A1 RAG1 KIF7 DCLRE1C NOD2 CTLA4 NLRP3 HPRT1 ABCG8 HGD MMP13 HLA-DRB1 NLRP3 SH3KBP1 SLC37A4 TF CCN6 ZNF687 GJB2 IL2RA PFKM AIP FASLG TREX1 HLA-B MATN3 ASPN TNFRSF1A C4A COL2A1 MYH14 UBAC2 FAS ARVCF ACP5 EXT2 PRG4 AEBP1 MTHFD1 ANKRD55 PTPN22 TFR2 GCH1 GJB6 COL9A1 COL11A2 PTPN22 SPP1 RNASEH2B TRAPPC2 OCRL TREX1 LRRC8A GBA COL1A1 LMX1B ACAN GP1BB TLR4 ANK1 COMP UFD1 SLC12A3 NLRP3 FAS HGD IL12A SEC61A1 PHEX COPA HPGD IRF5 FCGR2B TRPV4 PSMB9 WIPF1 CTLA4 CAV1 MVK HLA-DRB1 ATP7B MUC1 COL9A1 ACAN ATP7B EPCAM DNASE1L3 CLCNKB LMNA MMP2 IL10 IL12B RASGRP1 PTPN2 COMT COL2A1 STAT4 SLC37A4 GNAS MIF HLA-DRB1 WAS STAT4 RNF168 CLCN7 JMJD1C IL23R MEFV G6PC CFI ERAP1 F8 PSTPIP1 GHR HLA-B HIRA PRPS1 ADAR DNAJB11 MEFV PTPN2 IL10 ANKH IFIH1 STAT4 COL5A1 FRZB HPGD KIF22 TBX1 CIITA CD79B IGLL1 IRAK1 IL2RB MATN3 COL9A2 COL9A3 TNFRSF11B COMP HLA-B STAT4 PADI4 MATN3 HJV COL2A1 SMAD3 F9 TRPS1 UFSP2 RAG2 COL1A1 MEFV COL5A1 ANKRD55 SLC40A1 SLC4A1 SPTA1 FBN1 BTK RNASEH2C DNASE1 CANT1 TBX1 PHEX CD247 TCF3 PSMB4 PIK3R1 AGA CD244 COL5A2 LEMD3 FGFR3 RNASEH2A ACAN HPRT1 ANKH SEC24C GDF5 SLC22A4 UMOD HPRT1 TRPV4 HPGD BTK FAS COL9A3 UFSP2 ZMPSTE24 PTPN22 LACC1 HPRT1 NLRP3 HNF1B HOXD10 PRKCD SLC26A2 COL9A2 SMAD3 FCGR2A CCN2 CLCN7 COL3A1 ASAH1 NLRP12
Protein Mutations 4
A147T N363S R620W V600E