RAVER2, ribonucleoprotein, PTB binding 2, 55225

N. diseases: 8; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9128
rs9128
Entrez Id: 3716;55225
Gene Symbol: JAK1;RAVER2
JAK1;RAVER2
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12752552
rs12752552
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0017638
Disease:
Glioma
T 0.700 GeneticVariation GWASCAT Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. 29743610 2018
dbSNP: rs12752552
rs12752552
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0017638
Disease:
Glioma
T 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs12752552
rs12752552
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C1621958
Disease:
Glioblastoma Multiforme
T 0.700 GeneticVariation GWASCAT We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10<sup>-9</sup>, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10<sup>-10</sup>, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10<sup>-8</sup>, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10<sup>-11</sup>, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10<sup>-10</sup>, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10<sup>-9</sup>, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10<sup>-10</sup>, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10<sup>-10</sup>, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10<sup>-9</sup>, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10<sup>-8</sup>, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10<sup>-10</sup>, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10<sup>-11</sup>, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10<sup>-9</sup>, OR = 1.18). 28346443 2017
dbSNP: rs12752552
rs12752552
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0017636
Disease:
Glioblastoma
T 0.700 GeneticVariation GWASCAT We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 × 10<sup>-9</sup>, odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 × 10<sup>-10</sup>, OR = 1.24), 16p13.3 (rs2562152; P = 1.93 × 10<sup>-8</sup>, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 × 10<sup>-11</sup>, OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 × 10<sup>-10</sup>, OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 × 10<sup>-9</sup>, OR = 1.19), 1q44 (rs12076373; P = 2.63 × 10<sup>-10</sup>, OR = 1.23), 2q33.3 (rs7572263; P = 2.18 × 10<sup>-10</sup>, OR = 1.20), 3p14.1 (rs11706832; P = 7.66 × 10<sup>-9</sup>, OR = 1.15), 10q24.33 (rs11598018; P = 3.39 × 10<sup>-8</sup>, OR = 1.14), 11q21 (rs7107785; P = 3.87 × 10<sup>-10</sup>, OR = 1.16), 14q12 (rs10131032; P = 5.07 × 10<sup>-11</sup>, OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 × 10<sup>-9</sup>, OR = 1.18). 28346443 2017
dbSNP: rs12752552
rs12752552
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0085136
Disease:
Central Nervous System Neoplasms
T 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs114695117
rs114695117
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0200638
Disease:
Eosinophil count procedure
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs112395617
rs112395617
Entrez Id: 3716;55225
Gene Symbol: JAK1;RAVER2
JAK1;RAVER2
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE These data suggest that the rs112395617 polymorphism may contribute to HCC susceptibility, in full or at least partially through an effect on <i>JAK1</i> transcriptional activity by disrupting its binding with miR-431-5p. 29731916 2018
dbSNP: rs1333739
rs1333739
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. 22561236 2012
dbSNP: rs2780814
rs2780814
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. 22561236 2012
dbSNP: rs2780814
rs2780814
Entrez Id: 55225
Gene Symbol: RAVER2
RAVER2
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE We show that rs2780814 is significantly associated with UC (P = 0.00016, P(corr) = 0.00048, OR = 3.66 (1.82; 7.34)). 22561236 2012
dbSNP: rs2780889
rs2780889
Entrez Id: 3716;55225
Gene Symbol: JAK1;RAVER2
JAK1;RAVER2
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. 22561236 2012