CREBRF, CREB3 regulatory factor, 153222

N. diseases: 50; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3095844
rs3095844
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13153580
rs13153580
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs171644
rs171644
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs251230
rs251230
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs29776
rs29776
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs29777
rs29777
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs3095843
rs3095843
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs3095847
rs3095847
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs400858
rs400858
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs40264
rs40264
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs412673
rs412673
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs435216
rs435216
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs623576
rs623576
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
0.700 GeneticVariation GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE The CREBRF missense variant (p.Arg457Gln) is paradoxically associated with lower risk of type 2 diabetes, yet higher body mass index (BMI). 31543511 2020
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE Variants in CREBRF (rs12513649 and rs373863828) have been strongly associated with increased BMI and decreased risk of type 2 diabetes in Polynesian populations; the A allele at rs373863828 is common in Polynesians but rare in most other global populations. 31280340 2019
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE Our results in New Zealand Polynesian adults replicate, with very similar effect sizes, the association of the A allele of rs373863828 with higher BMI but lower odds of type 2 diabetes among Samoan adults living in Samoa and American Samoa. 29721634 2018
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Meta-analyses combining the current results with previous results in Polynesians showed a strong association between the A allele at rs373863828 and BMI (β = 1.38 kg/m<sup>2</sup>; p = 2.5 × 10<sup>-29</sup>) and diabetes (OR 0.65, p = 1.5 × 10<sup>-13</sup>). 31280340 2019
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD). 31280340 2019
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Meta-analyses combining the current results with previous results in Polynesians showed a strong association between the A allele at rs373863828 and BMI (β = 1.38 kg/m<sup>2</sup>; p = 2.5 × 10<sup>-29</sup>) and diabetes (OR 0.65, p = 1.5 × 10<sup>-13</sup>). 31280340 2019
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD). 31280340 2019
dbSNP: rs373863828
rs373863828
Entrez Id: 153222
Gene Symbol: CREBRF
CREBRF
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE Linear and logistic regression models were used to analyse the association of the A allele of CREBRF rs373863828 with BMI, log-transformed BMI, waist circumference, type 2 diabetes, gout and CKD in 2286 adults. 29721634 2018