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rs1800458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800458(A;A)
Make rs1800458(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592902
GeneTTR
is asnp
is mentioned by
dbSNPrs1800458
ebirs1800458
HLIrs1800458
Exacrs1800458
Varsomers1800458
Maprs1800458
PheGenIrs1800458
hapmaprs1800458
1000 genomesrs1800458
hgdprs1800458
ensemblrs1800458
gopubmedrs1800458
geneviewrs1800458
scholarrs1800458
googlers1800458
pharmgkbrs1800458
gwascentralrs1800458
openSNPrs1800458
23andMers1800458
23andMe allrs1800458
SNP Nexus

SNPshotrs1800458
SNPdbers1800458
MSV3drs1800458
GWAS Ctlgrs1800458
GMAF0.03398
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM176300
DescTRANSTHYRETIN SER-6 POLYMORPHISM
Variant0036
Relatedalso
Neighborrs28933979
Distance72


ClinVar
Risk rs1800458(A;A)
Alt rs1800458(A;A)
Reference rs1800458(G;G)
Significance Non-pathogenic
Disease TRANSTHYRETIN POLYMORPHISM not specified
Variation info
Gene TTR
CLNDBN TRANSTHYRETIN POLYMORPHISM not specified
Reversed 0
HGVS NC_000018.9:g.29172865G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014394.2, RCV000036379.7,



[PMID 16716350] Transthyretin: no association between serum levels or gene variants and schizophrenia.

[PMID 19328595OA-icon.png] Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families.


GET Evidence
TTR-G26S
aa_change Gly26Ser
aa_change_short G26S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0561443
summary