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rs5743618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 2 greater resistance to leprosy; but also consequence for Lyme patients
Make rs5743618(G;T)
Make rs5743618(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position38797027
GeneTLR1
is asnp
is mentioned by
dbSNPrs5743618
ebirs5743618
HLIrs5743618
Exacrs5743618
Varsomers5743618
Maprs5743618
PheGenIrs5743618
hapmaprs5743618
1000 genomesrs5743618
hgdprs5743618
ensemblrs5743618
gopubmedrs5743618
geneviewrs5743618
scholarrs5743618
googlers5743618
pharmgkbrs5743618
gwascentralrs5743618
openSNPrs5743618
23andMers5743618
23andMe allrs5743618
SNP Nexus

SNPshotrs5743618
SNPdbers5743618
MSV3drs5743618
GWAS Ctlgrs5743618
GMAF0.331
Max Magnitude2
OMIM601194
DescTOLL-LIKE RECEPTOR 1; TLR1
Variant
Relatedalso


OMIM601194
Desc
Variant0001
Relatedalso
[PMID 22238472OA-icon.png] Variants in toll-like receptor 1 and 4 genes are associated with Chlamydia trachomatis among women with pelvic inflammatory disease


ClinVar
Risk rs5743618(T;T)
Alt rs5743618(T;T)
Reference rs5743618(G;G)
Significance Other
Disease Leprosy
Variation info
Gene TLR1
CLNDBN Leprosy, protection against
Reversed 1
HGVS NC_000004.11:g.38798648C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008865.5,



[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.


[PMID 18635889OA-icon.png] Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.


[PMID 19134200OA-icon.png] No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.


[PMID 19543401OA-icon.png] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.


[PMID 20016852OA-icon.png] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.


[PMID 20478407] The toll-like receptor 1 variant S248N influences placental malaria.


[PMID 20617178OA-icon.png] Leprosy and the adaptation of human toll-like receptor 1.


[PMID 21872627] Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.


GET Evidence
TLR1-S602I
aa_change Ser602Ile
aa_change_short S602I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.485218
summary



[PMID 23255565OA-icon.png] Racial variation in toll-like receptor variants among women with pelvic inflammatory disease.