Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9680823
rs9680823
Entrez Id: 51493
Gene Symbol: RTCB
RTCB
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs9680823
rs9680823
Entrez Id: 51493
Gene Symbol: RTCB
RTCB
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs734809
rs734809
Entrez Id: 51493
Gene Symbol: RTCB
RTCB
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Patients with HCC were more likely to be PNPLA3 rs734809 G/G homozygotes (41/150 vs. 60/361, p=0.009) or TM6SF2 rs58542926 C/T-T/T (27/150 vs. 41/361, p=0.044). 26493626 2016
dbSNP: rs9609538
rs9609538
Entrez Id: 51493;254240
Gene Symbol: RTCB;BPIFC
RTCB;BPIFC
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. 24190013 2014
dbSNP: rs9609538
rs9609538
Entrez Id: 51493;254240
Gene Symbol: RTCB;BPIFC
RTCB;BPIFC
CUI: C0677886
Disease:
Epithelial ovarian cancer
0.010 GeneticVariation BEFREE In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. 24190013 2014