Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1314714440
rs1314714440
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609

2013
dbSNP: rs1314714440
rs1314714440
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793

2006
dbSNP: rs766402526
rs766402526
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609

2013
dbSNP: rs766402526
rs766402526
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793

2006
dbSNP: rs769564038
rs769564038
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE The association of ACT -17 A/T polymorphism with Alzheimer's disease: a meta-analysis. 22272609

2013
dbSNP: rs769564038
rs769564038
ACOT7
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 GeneticVariation BEFREE Previously, a signal peptide polymorphism (codon -17A>T) in the ACT gene has been suggested to affect AD risk, but with inconsistent findings. 16137793

2006
dbSNP: rs1034220998
rs1034220998
ACOT7
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827

2017
dbSNP: rs1465262924
rs1465262924
ACOT7
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213

2002
dbSNP: rs1465262924
rs1465262924
ACOT7
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 GeneticVariation BEFREE The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder. 12050213

2002
dbSNP: rs368731455
rs368731455
ACOT7
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation BEFREE XPD c.934G>A polymorphism of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma patients treated with cisplatin chemoradiation. 26918827

2017
dbSNP: rs758821654
rs758821654
ACOT7
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827

2017
dbSNP: rs765693356
rs765693356
ACOT7
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827

2017
dbSNP: rs772953044
rs772953044
ACOT7
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213

2002
dbSNP: rs772953044
rs772953044
ACOT7
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213

2002
dbSNP: rs909221872
rs909221872
ACOT7
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 GeneticVariation BEFREE Our findings suggest that the P33T IPF1 mutation may provide an increased susceptibility to the development of gestational diabetes and MODY4 in the Italy-6 pedigree. 16092045

2005
dbSNP: rs993269089
rs993269089
ACOT7
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 GeneticVariation BEFREE Haplotypes that included DDX39B (-22C > G and -348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels. 25038626

2014