BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6435862
rs6435862
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.030 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs6435862
rs6435862
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.030 GeneticVariation BEFREE However, stratified analysis showed a more profound association between neuroblastoma risk and rs6435862 TG/GG variant genotypes among older children (adjusted OR=1.55, 95% CI=1.04-2.31), and children with adrenal gland-originated disease (adjusted OR=2.94, 95% CI=1.40-6.18), or with ISSN clinical stages III+IV disease (adjusted OR=1.75, 95% CI=1.09-2.84). 26941572 2016
dbSNP: rs6435862
rs6435862
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.030 GeneticVariation BEFREE All NB susceptibility genes replicated in the Italian dataset except for DDX4 and IL31RA, and the most significant SNP was rs6435862 in BARD1 (P = 8.4 × 10(-15)). 23222812 2013
dbSNP: rs17489363
rs17489363
Entrez Id: 580;101928103
Gene Symbol: BARD1;SNHG31
BARD1;SNHG31
CUI: C0700095
Disease:
Central neuroblastoma
0.020 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs3768716
rs3768716
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.020 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs17489363
rs17489363
Entrez Id: 580;101928103
Gene Symbol: BARD1;SNHG31
BARD1;SNHG31
CUI: C0700095
Disease:
Central neuroblastoma
0.020 GeneticVariation BEFREE Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10<sup>-31</sup> , OR:1.79, 95% CI:1.62-1.98 and rs1048108: combined p = 7.27 × 10<sup>-14</sup> , OR:0.65, 95% CI:0.58-0.73). 30132831 2018
dbSNP: rs3768716
rs3768716
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.020 GeneticVariation BEFREE Our results suggest that the BARD1 rs6435862 T>G and rs3768716 A>G polymorphisms may contribute to increased susceptibility to neuroblastoma, especially for the subjects at age ≥12 months, with adrenal gland-originated or with late clinical stage neuroblastoma. 26941572 2016
dbSNP: rs17487792
rs17487792
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs3738888
rs3738888
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs3768707
rs3768707
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE After adjusted gender and age, seven out of eleven SNPs in <i>BARD1</i> were significant associated with the risk of NB, including one SNP in 5'-UTR (rs17489363 G > A), two SNPs in exon (rs2229571 G > C and rs3738888 C > T), and four SNPs in intron (rs3768716 A > G, rs6435862 T > G, rs3768707 C > T and rs17487792 C > T). 31258718 2019
dbSNP: rs1048108
rs1048108
Entrez Id: 580;101928103
Gene Symbol: BARD1;SNHG31
BARD1;SNHG31
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10<sup>-31</sup> , OR:1.79, 95% CI:1.62-1.98 and rs1048108: combined p = 7.27 × 10<sup>-14</sup> , OR:0.65, 95% CI:0.58-0.73). 30132831 2018