SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776759
rs587776759
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs587776760
rs587776760
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777286
rs587777286
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777287
rs587777287
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748394731
rs748394731
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs756998699
rs756998699
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs7623023
rs7623023
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Statistically significant interactions were found between intake of red and processed meat and <i>CCAT2</i> rs6983267, <i>TP53</i> rs1042522, <i>LPCAT1</i> rs7737692, <i>SLC25A20</i> rs7623023 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, 0.02, 0.03, respectively), and the use of NSAID and alcohol intake and <i>TP53</i> rs1042522 (<i>p</i><sub>interaction</sub> = 0.04, 0.04, respectively) in relation to the risk of CRC. 30841568 2019
dbSNP: rs745490594
rs745490594
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.010 GeneticVariation BEFREE Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. 29137068 2017
dbSNP: rs746361528
rs746361528
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0410257
Disease:
Traumatic rhabdomyolysis 		0.010 GeneticVariation BEFREE We also found that one patient with non-traumatic rhabdomyolysis and one healthy individual were heterozygous for c.804delG and the synonymous mutation c.516T>C, respectively. 24088670 2013