Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1226276218
rs1226276218
PARD6A ; ACD
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 GeneticVariation BEFREE Since the number of patients with DC is small and the effect of genetic pathogenic variant may affect the phenotype, we wanted to present the clinical features and course of illness in a patient with NHP2 gene mutation (compound heterozygote for the NHP2 mutations c.376G>A/c.460T>A; amino acid substitutions: p.Val126Met and p.X154Arg) that occurred as a compound heterozygous state. 30472699

2019
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE In addition, we found the first mutation outside the exonuclease domain, p.(Gln520Arg), in a family with an extensive history of colorectal cancer. 26251183

2015
dbSNP: rs1367801477
rs1367801477
ACD ; CARMIL2
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation BEFREE In addition, we found the first mutation outside the exonuclease domain, p.(Gln520Arg), in a family with an extensive history of colorectal cancer. 26251183

2015
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation BEFREE Functional experiments were used to further clarify the potential function of the significant variant and uncover the underlying mechanism in colorectal cancer development.<b>Results:</b> The two-stage association studies showed that a rare missense variant rs149418249 (c.<i>C</i>1520<i>T</i> and p.P507L) in the 11th exon of <i>TPP1</i> (also known as <i>ACD</i>, gene ID 65057) was significantly associated with colorectal cancer risk with the ORs being 2.90 [95% confidence interval (CI), 1.04-8.07; <i>P</i> = 0.041], 2.50 (95% CI, 1.04-6.04; <i>P</i> = 0.042), and 2.66 (95% CI, 1.36-5.18; <i>P</i> = 0.004) in discovery, replication, and the combined samples, respectively. 29891727

2018
dbSNP: rs149418249
rs149418249
ACD ; CARMIL2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Functional experiments were used to further clarify the potential function of the significant variant and uncover the underlying mechanism in colorectal cancer development.<b>Results:</b> The two-stage association studies showed that a rare missense variant rs149418249 (c.<i>C</i>1520<i>T</i> and p.P507L) in the 11th exon of <i>TPP1</i> (also known as <i>ACD</i>, gene ID 65057) was significantly associated with colorectal cancer risk with the ORs being 2.90 [95% confidence interval (CI), 1.04-8.07; <i>P</i> = 0.041], 2.50 (95% CI, 1.04-6.04; <i>P</i> = 0.042), and 2.66 (95% CI, 1.36-5.18; <i>P</i> = 0.004) in discovery, replication, and the combined samples, respectively. 29891727

2018
dbSNP: rs6979
rs6979
ACD ; CARMIL2
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 GeneticVariation BEFREE Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. 19854717

2010
dbSNP: rs749499406
rs749499406
ACD
CUI: C0025202
Disease: melanoma
melanoma 		0.010 GeneticVariation BEFREE We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). 30414346

2019