SLC19A1, solute carrier family 19 member 1, 6573

N. diseases: 155; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236479
rs2236479
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0877015
Disease:
Pelvic Organ Prolapse
0.710 GeneticVariation BEFREE Our study suggests lack of association between DNA polymorphisms rs2236479 of COL18A1 and rs2862296 of LOXL-4 with advanced POP in this population. 29532123 2018
dbSNP: rs2236479
rs2236479
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0877015
Disease:
Pelvic Organ Prolapse
0.710 GeneticVariation GWASDB Identification of six loci associated with pelvic organ prolapse using genome-wide association analysis. 22105264 2011
dbSNP: rs73370840
rs73370840
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C2938924
Disease:
Oestrogen receptor positive breast cancer
0.700 GeneticVariation GWASCAT Genome-wide association study of germline variants and breast cancer-specific mortality. 30787463 2019
dbSNP: rs12483377
rs12483377
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs144147445
rs144147445
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs77974343
rs77974343
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C1445957
Disease:
Serum total cholesterol measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1555877107
rs1555877107
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
GTGCC 0.700 CausalMutation CLINVAR Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. 25456301 2014
dbSNP: rs142899279
rs142899279
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
dbSNP: rs2236479
rs2236479
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.700 GeneticVariation GWASDB Including additional controls from public databases improves the power of a genome-wide association study. 21849791 2011
dbSNP: rs2330183
rs2330183
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
CUI: C0392707
Disease:
Atopy
0.700 GeneticVariation GWASDB A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). 19961619 2009
dbSNP: rs1057518802
rs1057518802
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0028738
Disease:
Nystagmus
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518802
rs1057518802
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0086543
Disease:
Cataract
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518802
rs1057518802
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0854723
Disease:
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518802
rs1057518802
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0271183
Disease:
Severe myopia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs113847452
rs113847452
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555870809
rs1555870809
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0854723
Disease:
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555874538
rs1555874538
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0854723
Disease:
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs398122391
rs398122391
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0035334
Disease:
Retinitis Pigmentosa
C 0.700 GeneticVariation CLINVAR
dbSNP: rs398122391
rs398122391
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0730292
Disease:
Macular dystrophy
C 0.700 GeneticVariation CLINVAR
dbSNP: rs398122391
rs398122391
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
C 0.700 CausalMutation CLINVAR
dbSNP: rs749009747
rs749009747
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
GC 0.700 CausalMutation CLINVAR
dbSNP: rs749009747
rs749009747
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C0854723
Disease:
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR
dbSNP: rs756797124
rs756797124
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
A 0.700 CausalMutation CLINVAR
dbSNP: rs769882681
rs769882681
Entrez Id: 6573;80781
Gene Symbol: SLC19A1;COL18A1
SLC19A1;COL18A1
CUI: C4551775
Disease:
Knobloch Syndrome, Type I
GC 0.700 CausalMutation CLINVAR
dbSNP: rs775144154
rs775144154
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.100 GeneticVariation BEFREE Our results suggest that the RFC-1 80G>A (rs1051266) SNP exerts a potentially protective effect against the risk of adverse drug reactions in Chinese RA patients treated with MTX. 31099054 2019