Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1457582183
rs1457582183
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation BEFREE Endometriosis is not associated with gene mutations for p53codon72, TNF-308 G/A, VEGF-1154G/A, SOD Ala16Val. 23167810

2013

dbSNP: rs1457582183
rs1457582183
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1 C118T; XRCC3 Thr241Met (C/T); XPD Lys751Gln (A/C); P53 Arg72Pro (G/C), and RRM1 C524T in 192 chemotherapy-naive patients with advanced NSCLC treated with cisplatin/gemcitabine-based regimen by TaqMan probe-based assays with 7300 Real-Time PCR System, using genomic DNA extracted from blood samples. 22052224

2011

dbSNP: rs1457582183
rs1457582183
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Polymorphism (ALA16VAL) correlates with regional lymph node status in breast cancer. 20082851

2010

dbSNP: rs1457582183
rs1457582183
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Polymorphism (ALA16VAL) correlates with regional lymph node status in breast cancer. 20082851

2010

dbSNP: rs1457582183
rs1457582183
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE Complete sequence analysis of these samples demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC samples B6-21 and B6-2, respectively. 10340391

1999