Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79589812
rs79589812
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Gene-set enrichment and pathway analysis revealed that rs505974 may affect the susceptibility to lung cancer via regulating the expression of CLDN16, which may be involved in the chemical carcinogenesis pathway, whereas rs79589812 may regulate the expression of SPATC1L, which may be involved in the base excision repair pathway. 30689816 2019
dbSNP: rs79589812
rs79589812
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Gene-set enrichment and pathway analysis revealed that rs505974 may affect the susceptibility to lung cancer via regulating the expression of CLDN16, which may be involved in the chemical carcinogenesis pathway, whereas rs79589812 may regulate the expression of SPATC1L, which may be involved in the base excision repair pathway. 30689816 2019
dbSNP: rs79589812
rs79589812
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Gene-set enrichment and pathway analysis revealed that rs505974 may affect the susceptibility to lung cancer via regulating the expression of CLDN16, which may be involved in the chemical carcinogenesis pathway, whereas rs79589812 may regulate the expression of SPATC1L, which may be involved in the base excision repair pathway. 30689816 2019
dbSNP: rs79589812
rs79589812
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C0596321
Disease:
Chemical Carcinogenesis
0.010 GeneticVariation BEFREE Gene-set enrichment and pathway analysis revealed that rs505974 may affect the susceptibility to lung cancer via regulating the expression of CLDN16, which may be involved in the chemical carcinogenesis pathway, whereas rs79589812 may regulate the expression of SPATC1L, which may be involved in the base excision repair pathway. 30689816 2019
dbSNP: rs113710653
rs113710653
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C0012736
Disease:
Dissecting aortic aneurysm
0.010 GeneticVariation BEFREE Multivariable logistic regression analysis with adjustment for covariates revealed that rs113710653 [C/T (E231K)] of the spermatogenesis- and centriole associated 1-like gene (SPATC1L) (dominant model; P=0.0002; odds ratio, 5.32) and rs143881017 [C/T (R140H)] of the ribonuclease A family member 13 gene (RNASE13) (dominant model; P=0.0006; odds ratio, 5.77) were significantly (P<2.78x10-4 or P<6.58x10-4, respectively) associated with true or dissecting aortic aneurysm, respectively. 28339009 2017
dbSNP: rs113710653
rs113710653
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE Eight SNPs were related (P<0.01) to atrial fibrillation, among which three polymorphisms, rs11552708 [G/A (G67R)]of TNF superfamily member 13 (TNFSF13; dominant model; P=9.36x10‑9; odds ratio, 0.58), rs113710653 [C/T (E231 K)] of spermatogenesis and centriole associated 1 like (SPATC1L; dominant model; P=1.09x10‑5; odds ratio, 3.27), and rs11231397 [G/C (R300T)] of solute carrier family 22 member 25 (SLC22A25; additive model; P=3.71x10‑5; odds ratio, 1.77), were significantly (P<1.02x10‑4) associated with this condition. 28849223 2017