CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142833529
rs142833529
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0001206
Disease:
Acromegaly
0.010 GeneticVariation BEFREE The I119T substitution occurred in a female patient with acromegaly. p27(I119T) shows an abnormal migration pattern by SDS-PAGE. 22291433 2012
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C1306214
Disease:
ACTH-Secreting Pituitary Adenoma
0.010 GeneticVariation BEFREE Our genetic and in vitro data indicate that the common polymorphism rs2066827 may play a role in corticotropinoma susceptibility and tumorigenesis through a molecular mechanism not fully understood thus far. 24532476 2014
dbSNP: rs35756741
rs35756741
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Based on this meta-analysis, we conclude that the cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism might not be a risk factor for breast cancer development. 24523023 2014
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE To test this hypothesis, we evaluated the associations of the polymorphisms of Ser31Arg and C+20T in CDKN1A and C-79T and Gly109Val in CDKN1B, as well as their combinations, with breast cancer risk in a case-control study of 368 breast cancer cases and 467 cancer-free controls in a Chinese population. 16804901 2006
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). 18174243 2008
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE This meta-analysis suggests that breast cancer may be associated with CDKN1B gene rs34330 polymorphism, but not rs2066827 polymorphism. 24078094 2013
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Further studies, either with larger sample size or involving other SNPs and haplotypes of the cyclin-dependent kinase inhibitor 1B gene, are necessary to clarify the contribution of cyclin-dependent kinase inhibitor 1B rs2066827 in breast carcinogenesis. 24523023 2014
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE Our genetic and in vitro data indicate that the common polymorphism rs2066827 may play a role in corticotropinoma susceptibility and tumorigenesis through a molecular mechanism not fully understood thus far. 24532476 2014
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0596263
Disease:
Carcinogenesis
0.030 GeneticVariation BEFREE CDKN1B mutations and polymorphisms are involved in tumorigenesis; specifically, the V109G single nucleotide polymorphism has been linked to different tumours with controversial results. 25824098 2015
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE When individuals with variant-containing genotypes were compared with homozygous wild-type carriers, a significantly increased lung cancer risk was identified for polymorphisms in p53 intron 6 [rs1625895; odds ratio (OR), 1.29; 95% confidence interval (95% CI), 1.08-1.55] and in p27 5' untranslated region (UTR; rs34330; OR, 1.27; 95% CI, 1.01-1.60). 17908995 2007
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.020 GeneticVariation BEFREE The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. 23277402 2013
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.020 GeneticVariation BEFREE A slightly deceased risk of cancer was also indicated in Caucasians consisting of 6707 cases and 8279 controls (pooled OR 0.91, 95% CI: 0.85-0.98; model, TG vs. TT).These data suggest that carriage of a TG genotype at rs2066827 polymorphism may be associated with decreased susceptibility to cancer, ovarian cancer in particular. 26579796 2015
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE We identified an association of the rs34330 T allele (-79C/T) with the neuroblastoma risk (P<sub>combined</sub> = 0.002; OR = 1.17). 28667701 2017
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE We identified an association of the rs34330 T allele (-79C/T) with the neuroblastoma risk (P<sub>combined</sub> = 0.002; OR = 1.17). 28667701 2017
dbSNP: rs121917832
rs121917832
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE The following polymorphisms were studied: rs1800469, rs759853, rs1553005, rs1799983, rs1801133, rs3134069, rs2073618, rs8192678, rs6330, rs11466112, rs121917832 in terms of alleles distribution in patients with DF and T2DM, with or without CKD. 26579581 2015
dbSNP: rs121917832
rs121917832
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0206172
Disease:
Diabetic Foot
0.010 GeneticVariation BEFREE The following polymorphisms were studied: rs1800469, rs759853, rs1553005, rs1799983, rs1801133, rs3134069, rs2073618, rs8192678, rs6330, rs11466112, rs121917832 in terms of alleles distribution in patients with DF and T2DM, with or without CKD. 26579581 2015
dbSNP: rs34327
rs34327
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
CUI: C0428883
Disease:
Diastolic blood pressure
T 0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were related to endometrial cancer risk, although only the association with rs34330 remained statistically significant after adjustment for multiple comparisons. 21454826 2011
dbSNP: rs3759216
rs3759216
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE In vitro luciferase reporter assays showed that the minor allele (A) in rs3759216, which was associated with decreased endometrial cancer risk (odds ratio = 0.73, 95% CI: 0.56, 0.94) without adjustment for multiple comparisons, significantly increased promoter activity. 21454826 2011
dbSNP: rs34330
rs34330
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C3714651
Disease:
Follicular Variant Thyroid Gland Papillary Carcinoma
0.010 GeneticVariation BEFREE The polymorphism rs34330 (-79C>T) was identified as a risk factor for developing the follicular variant of papillary thyroid carcinoma (FVPTC), fitting a recessive model (odds ratio=2.12; 95% confidence interval=1.09-4.15; P value=0.023). 20075119 2010
dbSNP: rs551236750
rs551236750
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0221002
Disease:
Hyperparathyroidism, Primary
T 0.700 CausalMutation CLINVAR
dbSNP: rs774454456
rs774454456
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C0221002
Disease:
Hyperparathyroidism, Primary
C 0.700 CausalMutation CLINVAR
dbSNP: rs34329
rs34329
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE Six of 9 single nucleotide polymorphisms in the cell cycle showed significant risks for oral cancer, the highest risk being evident for p27 (rs34329; Odds ratio 3.05, 95% CI 2.12 to 4.40). 24947332 2014
dbSNP: rs2066827
rs2066827
Entrez Id: 1027;2842
Gene Symbol: CDKN1B;GPR19
CDKN1B;GPR19
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE To test this hypothesis, we evaluated the associations of the polymorphisms of Ser31Arg and C+20T in p21 and C-79T and Gly109Val in p27, as well as their combinations, with HCC risk in a case-control study of 476 HCC cases and 526 cancer-free controls in a Chinese population. 23034899 2013