SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358222
rs80358222
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C1855577
Disease:
Erythrocyte Lactate Transporter Defect 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358222
rs80358222
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C1855577
Disease:
Erythrocyte Lactate Transporter Defect 		C 0.800 CausalMutation CLINVAR
dbSNP: rs11804107
rs11804107
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11804107
rs11804107
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs72552271
rs72552271
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C1855577
Disease:
Erythrocyte Lactate Transporter Defect 		0.700 GeneticVariation UNIPROT Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. 10590411 2000
dbSNP: rs387906403
rs387906403
Entrez Id: 6566;100506392
Gene Symbol: SLC16A1;SLC16A1-AS1
SLC16A1;SLC16A1-AS1
CUI: C1864902
Disease:
Hyperinsulinemic hypoglycemia, familial, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231172
rs606231172
Entrez Id: 6566;100506392
Gene Symbol: SLC16A1;SLC16A1-AS1
SLC16A1;SLC16A1-AS1
CUI: C1864902
Disease:
Hyperinsulinemic hypoglycemia, familial, 7 		CCCCCACCCCGCCACGTGACCGGCGT 0.700 CausalMutation CLINVAR
dbSNP: rs606231299
rs606231299
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016683
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231300
rs606231300
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016684
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231301
rs606231301
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016684
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231302
rs606231302
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4015186
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		0.700 GeneticVariation UNIPROT
dbSNP: rs606231302
rs606231302
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016684
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231309
rs606231309
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016683
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs606231310
rs606231310
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C1864902
Disease:
Hyperinsulinemic hypoglycemia, familial, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231310
rs606231310
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016683
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231311
rs606231311
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016684
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs606231312
rs606231312
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C4016684
Disease:
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs60844753
rs60844753
Entrez Id: 6566;100506392
Gene Symbol: SLC16A1;SLC16A1-AS1
SLC16A1;SLC16A1-AS1
CUI: C0234533
Disease:
Generalized seizures 		0.010 GeneticVariation BEFREE We found that among all the patients, MCT1 rs60844753 CC carriers have higher incidence of VPA-resistance than CG carriers (P = 0.05), and in subgroup of generalized seizure, ABCC2 rs3740066 CC carriers had higher frequency of VPA resistance than TC + TT carriers (P = 0.03). 30952578 2019
dbSNP: rs1049434
rs1049434
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Our study also showed that MCT1 rs1049434, rs60844753 and MCT2 rs995343 SNPs had a cumulative effect on CRC recurrence-free survival (P for trend 0.011). 25492048 2015
dbSNP: rs1049434
rs1049434
Entrez Id: 6566
Gene Symbol: SLC16A1
SLC16A1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE TT genotype of SNP rs1049434 (MCT1) was significantly associated with better overall survival (OS) (HR = 0.56, P = 0.026) and recurrence-free survival (RFS) (HR = 0.57, P = 0.016) of NSCLC patients. 25578492 2015
dbSNP: rs60844753
rs60844753
Entrez Id: 6566;100506392
Gene Symbol: SLC16A1;SLC16A1-AS1
SLC16A1;SLC16A1-AS1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Two other SNPs (MCT1: rs60844753/5' near gene and MCT2: rs995343/intron) exhibited associations with recurrence-free survival of CRC patients (HR 0.67; P = 0.078 and HR 0.74; P = 0.036, respectively). 25492048 2015