Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2370823
rs2370823
Entrez Id: 23583;400043
Gene Symbol: SMUG1;LINC02381
SMUG1;LINC02381
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2370823
rs2370823
Entrez Id: 23583;400043
Gene Symbol: SMUG1;LINC02381
SMUG1;LINC02381
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11170829
rs11170829
Entrez Id: 23583;105369776
Gene Symbol: SMUG1;SMUG1-AS1
SMUG1;SMUG1-AS1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs11170829
rs11170829
Entrez Id: 23583;105369776
Gene Symbol: SMUG1;SMUG1-AS1
SMUG1;SMUG1-AS1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs3087404
rs3087404
Entrez Id: 23583;105369777
Gene Symbol: SMUG1;LOC105369777
SMUG1;LOC105369777
CUI: C0242383
Disease:
Age related macular degeneration
0.030 GeneticVariation BEFREE Association of the DNA repair SMUG1 rs3087404 polymorphism and its interaction with high sensitivity C-reactive protein for age-related macular degeneration in Iranian patients. 28095127 2017
dbSNP: rs3087404
rs3087404
Entrez Id: 23583;105369777
Gene Symbol: SMUG1;LOC105369777
SMUG1;LOC105369777
CUI: C0242383
Disease:
Age related macular degeneration
0.030 GeneticVariation BEFREE To investigate the association between the g.4235T>C (rs2337395) polymorphism of the UNG gene and the c.-31A>G (rs3087404) polymorphism of the SMUG1 gene and the risk of age-related macular degeneration (AMD), as well as modulation of this association by some environmental and lifestyle factors. 23714858 2014
dbSNP: rs3087404
rs3087404
Entrez Id: 23583;105369777
Gene Symbol: SMUG1;LOC105369777
SMUG1;LOC105369777
CUI: C0242383
Disease:
Age related macular degeneration
0.030 GeneticVariation BEFREE We observed that the g.4235T>C (rs2337395) and c.-32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. 23202958 2012
dbSNP: rs3087404
rs3087404
Entrez Id: 23583;105369777
Gene Symbol: SMUG1;LOC105369777
SMUG1;LOC105369777
CUI: C0851140
Disease:
Carcinoma in situ of uterine cervix
0.010 GeneticVariation BEFREE During the linkage disequilibrium analysis between rs3087404 (A/G) and rs2029167 (A/G), the genotype with AA-GG [OR=3.14(1.95-5.05)], AG-GG [OR=2.45(1.58-3.89)], GG-AA [OR=2.24(1.28-3.90)] and GG-AG [OR=2.58(1.54-4.32)] significantly increased the risk of CIN</span> III. 30662544 2019
dbSNP: rs3087404
rs3087404
Entrez Id: 23583;105369777
Gene Symbol: SMUG1;LOC105369777
SMUG1;LOC105369777
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Meanwhile, we also found that there is a correlation between the SNPs of SMUG1 rs3087404 (A/G) and rs2029167 (A/G) with tumor cell differentiation and family heredity. 30662544 2019
dbSNP: rs1450457536
rs1450457536
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE We observed that the g.4235T>C (rs2337395) and c.-32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. 23202958 2012
dbSNP: rs771744744
rs771744744
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0037771
Disease:
Paraparesis, Spastic
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322 2010
dbSNP: rs771744744
rs771744744
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322 2010
dbSNP: rs771744744
rs771744744
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0013362
Disease:
Dysarthria
0.010 GeneticVariation BEFREE A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. 19912322 2010
dbSNP: rs1043202
rs1043202
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0497327
Disease:
Dementia
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399 2008
dbSNP: rs1043202
rs1043202
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene. 19073399 2008
dbSNP: rs1043202
rs1043202
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
CUI: C0011265
Disease:
Presenile dementia
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399 2008