BGLAP, bone gamma-carboxyglutamate protein, 632

N. diseases: 274; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759330
rs759330
Entrez Id: 632;79957;100527963
Gene Symbol: BGLAP;PAQR6;PMF1-BGLAP
BGLAP;PAQR6;PMF1-BGLAP
CUI: C1833683
Disease:
NEPHROLITHIASIS, CALCIUM OXALATE 		A 0.700 GeneticVariation CLINVAR A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. 24886237 2014
dbSNP: rs1800247
rs1800247
Entrez Id: 632;100527963
Gene Symbol: BGLAP;PMF1-BGLAP
BGLAP;PMF1-BGLAP
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE In the stratified analysis b</span>y the median of HO</span>MA-IR </span>(1.93), r</span>s1800247 was significantly associated with h</span>ypertension in the subgroup with HOMA-IR⩽1.93 (OR=0.82, 95% CI 0.71-0.94, P=0.005), but this association was not significant in the subgroup with HOMA-IR >1.93. 27251081 2016
dbSNP: rs1800247
rs1800247
Entrez Id: 632;100527963
Gene Symbol: BGLAP;PMF1-BGLAP
BGLAP;PMF1-BGLAP
CUI: C0029456
Disease:
Osteoporosis 		0.010 GeneticVariation BEFREE A common polymorphism rs1800247 in osteocalcin gene may affect the risk of osteoporosis and fracture and serum total osteocalcin levels in Chinese, and there may be gender differences underlying these associations. 26194493 2016
dbSNP: rs1800247
rs1800247
Entrez Id: 632;100527963
Gene Symbol: BGLAP;PMF1-BGLAP
BGLAP;PMF1-BGLAP
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE These findings for the first time suggest that genetic variant in osteocalcin gene rs1800247 polymorphisms may be a risk factor for HBV-related HCC. 25587715 2015
dbSNP: rs1800247
rs1800247
Entrez Id: 632;100527963
Gene Symbol: BGLAP;PMF1-BGLAP
BGLAP;PMF1-BGLAP
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE No SNP altered measures of insulin secretion or obesity, nor was BGLAP expression associated with rs1800247. 20592451 2010