Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1576
rs1576
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.710 GeneticVariation BEFREE The noncoding SNPs rs1265112 and rs746647 were in complete linkage disequilibrium with the nonsynonymous SNP rs1576 (r(2) = 1.00), which has been associated with psoriasis. 21810746 2011
dbSNP: rs11961407
rs11961407
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Patients with high Hcy and MTHFR 667CC, as well as those with low Hcy and 667CT+TT, showed lower odds of uncontrolled SBP (MTHFR 667CC+ high Hcy: OR: 0.338, 95% CI: 0.115-0.996, Pcombined = 0.049; MTHFR 667CT/TT+ low Hcy: OR: 0.421, 95% CI: 0.193-0.921, Pcombined = 0.030) compared to patients with low Hcy and MTHFR 667CC.<b>Conclusions</b>: Serum Hcy status and Hcy metabolism gene polymorphisms (MTHFR C667T and MTRR A66G) may have synergistic effects on the prevalence of HTN and dyslipidemia. 30786773 2020
dbSNP: rs11961407
rs11961407
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Patients with high Hcy and MTHFR 667CC, as well as those with low Hcy and 667CT+TT, showed lower odds of uncontrolled SBP (MTHFR 667CC+ high Hcy: OR: 0.338, 95% CI: 0.115-0.996, Pcombined = 0.049; MTHFR 667CT/TT+ low Hcy: OR: 0.421, 95% CI: 0.193-0.921, Pcombined = 0.030) compared to patients with low Hcy and MTHFR 667CC.<b>Conclusions</b>: Serum Hcy status and Hcy metabolism gene polymorphisms (MTHFR C667T and MTRR A66G) may have synergistic effects on the prevalence of HTN and dyslipidemia. 30786773 2020
dbSNP: rs1214959853
rs1214959853
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The purpose this study was to determine whether Arg353Gln and -323Del/Ins polymorphisms of factor VII (FVII) are related to blood pressure levels and hypertension. 15452029 2004
dbSNP: rs1265112
rs1265112
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.010 GeneticVariation BEFREE The noncoding SNPs rs1265112 and rs746647 were in complete linkage disequilibrium with the nonsynonymous SNP rs1576 (r(2) = 1.00), which has been associated with psoriasis. 21810746 2011
dbSNP: rs130067
rs130067
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.010 GeneticVariation BEFREE After applying a Bonferroni correction for the number of SNPs tested, the SNP mapping to CCHCR1 (rs130067) retained statistically significant evidence for association (P = 6 × 10(-4) ; odds ratio [OR] = 1.15, 95% CI: 1.06-1.24); this has also been associated with psoriasis. 22985493 2013
dbSNP: rs130071
rs130071
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.010 GeneticVariation BEFREE SNPn.7*22222 (rs12208888), SNPn.7*22333 (rs12216025), SNPn.9*24118 (rs10456057), CCHCR1_386 (rs130065), CCHCR1_404 (rs130076) and CCHCR1_1364 (rs130071) were found to be significant in psoriasis patients. 22182809 2011
dbSNP: rs2027937
rs2027937
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The other two polymorphic sites (G1258A and A7735G) are not associated with hypertension. 20033074 2010
dbSNP: rs746647
rs746647
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.010 GeneticVariation BEFREE The noncoding SNPs rs1265112 and rs746647 were in complete linkage disequilibrium with the nonsynonymous SNP rs1576 (r(2) = 1.00), which has been associated with psoriasis. 21810746 2011
dbSNP: rs9263739
rs9263739
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0009324
Disease:
Ulcerative Colitis
T 0.800 GeneticVariation GWASCAT A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 19915573 2009
dbSNP: rs1576
rs1576
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0033860
Disease:
Psoriasis
0.710 GeneticVariation GWASCAT Genome-wide association study of psoriasis in an Egyptian population. 30921485 2019
dbSNP: rs115321690
rs115321690
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs130067
rs130067
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0600139
Disease:
Prostate carcinoma
G 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs130067
rs130067
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0600139
Disease:
Prostate carcinoma
G 0.700 GeneticVariation GWASCAT Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. 21743467 2011
dbSNP: rs2240060
rs2240060
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0730345
Disease:
Microalbuminuria
A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria. 31511532 2019
dbSNP: rs3132535
rs3132535
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0026764
Disease:
Multiple Myeloma
A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
dbSNP: rs9263739
rs9263739
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0009324
Disease:
Ulcerative Colitis
T 0.800 GeneticVariation GWASDB A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 19915573 2009
dbSNP: rs1265110
rs1265110
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs1265110
rs1265110
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs1265115
rs1265115
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C1836233
Disease:
AIDS, PROGRESSION TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
dbSNP: rs1265115
rs1265115
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
dbSNP: rs1265115
rs1265115
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0019163
Disease:
Hepatitis B
0.700 GeneticVariation GWASDB A genome-wide association study identified new variants associated with the risk of chronic hepatitis B. 23760081 2013
dbSNP: rs1265115
rs1265115
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
dbSNP: rs1265115
rs1265115
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 GeneticVariation GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
dbSNP: rs130065
rs130065
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1
CUI: C0004096
Disease:
Asthma
0.700 GeneticVariation GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010