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rs1049434

From SNPedia

Orientationminus
Stabilizedminus
Make rs1049434(A;A)
Make rs1049434(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position112913924
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs1049434
ebirs1049434
HLIrs1049434
Exacrs1049434
Varsomers1049434
Maprs1049434
PheGenIrs1049434
hapmaprs1049434
1000 genomesrs1049434
hgdprs1049434
ensemblrs1049434
gopubmedrs1049434
geneviewrs1049434
scholarrs1049434
googlers1049434
pharmgkbrs1049434
gwascentralrs1049434
openSNPrs1049434
23andMers1049434
23andMe allrs1049434
SNP Nexus

SNPshotrs1049434
SNPdbers1049434
MSV3drs1049434
GWAS Ctlgrs1049434
GMAF0.3425
Max Magnitude
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene SLC16A1
allele T
frequency 0.358
sift
HuRef 1103675199307
Disease Association Defects in SLC16A1 are the cause of symptomatic deficiency in lactate transport (SDLT). SDLT is characterized by a subnormal erythrocyte lactate transport and signs of muscle injury on exercice and heat exposure.



[PMID 19850519] MCT1 genetic polymorphism influence in high intensity circuit training: A pilot study


[PMID 22516692] Influence of the MCT1-T1470A polymorphism (rs1049434) on blood lactate accumulation during different circuit weight trainings in men and women


GET Evidence
SLC16A1-D490E
aa_change Asp490Glu
aa_change_short D490E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.665551
summary



ClinVar
Risk rs1049434(A;A)
Alt rs1049434(A;A)
Reference rs1049434(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SLC16A1
CLNDBN not specified
Reversed 1
HGVS NC_000001.10:g.113456546A>T
CLNSRC ClinVar
CLNACC RCV000118353.1,



[PMID 25492048] Polymorphisms of monocarboxylate transporter genes are associated with clinical outcomes in patients with colorectal cancer


[PMID 25578492] Genetic variations in monocarboxylate transporter genes as predictors of clinical outcomes in non-small cell lung cancer


[PMID 26478856OA-icon.png] Influence of the MCT1 rs1049434 on Indirect Muscle Disorders/Injuries in Elite Football Players