Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517662
rs1057517662
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C4225301
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVII
0.800 GeneticVariation UNIPROT
dbSNP: rs1057517662
rs1057517662
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C4225301
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVII
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057517663
rs1057517663
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C4225301
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVII
0.800 GeneticVariation UNIPROT
dbSNP: rs1057517663
rs1057517663
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C4225301
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVII
T 0.800 CausalMutation CLINVAR
dbSNP: rs41290587
rs41290587
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C1305855
Disease:
Body mass index
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs72800245
rs72800245
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17718324
rs17718324
Entrez Id: 6678;101927096
Gene Symbol: SPARC;CLMAT3
SPARC;CLMAT3
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. 19074352 2008
dbSNP: rs11950384
rs11950384
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE On univariate and multivariate analyses, elder age and having at least one copy of the mutant rs3210714 were associated with a significantly increased risk of HCC (P < 0.001 for both), whereas the presence of at least one copy of the mutant rs11950384 carried a significantly reduced risk of having HCC (P < 0.01). 30422339 2019
dbSNP: rs3210714
rs3210714
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE On univariate and multivariate analyses, elder age and having at least one copy of the mutant rs3210714 were associated with a significantly increased risk of HCC (P < 0.001 for both), whereas the presence of at least one copy of the mutant rs11950384 carried a significantly reduced risk of having HCC (P < 0.01). 30422339 2019
dbSNP: rs7719521
rs7719521
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE AA or AC) among HCC patients in comparison with controls (83% vs 22%, P ≤ 0.001) and (65.5 vs 86%, P = 0.005), respectively, while rs7719521 mutation did not reach significance. 30422339 2019
dbSNP: rs3210714
rs3210714
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The present study revealed that SPARC rs3210714 and rs7719521 polymorphisms are associated with breast cancer risk and its prognosis. 30259245 2018
dbSNP: rs3210714
rs3210714
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The present study revealed that SPARC rs3210714 and rs7719521 polymorphisms are associated with breast cancer risk and its prognosis. 30259245 2018
dbSNP: rs7719521
rs7719521
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The present study revealed that SPARC rs3210714 and rs7719521 polymorphisms are associated with breast cancer risk and its prognosis. 30259245 2018
dbSNP: rs7719521
rs7719521
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The present study revealed that SPARC rs3210714 and rs7719521 polymorphisms are associated with breast cancer risk and its prognosis. 30259245 2018
dbSNP: rs1053411
rs1053411
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE Our results revealed that three SNPs (rs1059279, rs1059829, rs1053411) were significantly associated with increased risk of CWP under an additive model (OR = 1.35, 95%CI = 1.06-1.71, P = 0.015 for rs1059279; OR = 1.20, 95%CI = 1.03-1.39, P = 0.021 for rs1059829; OR = 1.31, 95%CI = 1.03-1.65, P = 0.025 for rs1053411). 25126876 2014
dbSNP: rs1059279
rs1059279
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE Our results revealed that three SNPs (rs1059279, rs1059829, rs1053411) were significantly associated with increased risk of CWP under an additive model (OR = 1.35, 95%CI = 1.06-1.71, P = 0.015 for rs1059279; OR = 1.20, 95%CI = 1.03-1.39, P = 0.021 for rs1059829; OR = 1.31, 95%CI = 1.03-1.65, P = 0.025 for rs1053411). 25126876 2014
dbSNP: rs1059829
rs1059829
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE Our results revealed that three SNPs (rs1059279, rs1059829, rs1053411) were significantly associated with increased risk of CWP under an additive model (OR = 1.35, 95%CI = 1.06-1.71, P = 0.015 for rs1059279; OR = 1.20, 95%CI = 1.03-1.39, P = 0.021 for rs1059829; OR = 1.31, 95%CI = 1.03-1.65, P = 0.025 for rs1053411). 25126876 2014
dbSNP: rs2304052
rs2304052
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Since the presence of the rs2304052 C allele is associated with an increased risk (odds ratio: 2.76) of developing hepatocarcinoma, our results allowed us to identify a SNP in the SPARC gene correlating to HCC susceptibility. 19817957 2009
dbSNP: rs756254503
rs756254503
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0013336
Disease:
Dwarfism
0.010 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515 1999
dbSNP: rs756254503
rs756254503
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0001080
Disease:
Achondroplasia
0.010 GeneticVariation BEFREE Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. 10587515 1999