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rs28933981

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28933981(C;T)
Make rs28933981(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31598647
GeneTTR
is asnp
is mentioned by
dbSNPrs28933981
ebirs28933981
HLIrs28933981
Exacrs28933981
Varsomers28933981
Maprs28933981
PheGenIrs28933981
hapmaprs28933981
1000 genomesrs28933981
hgdprs28933981
ensemblrs28933981
gopubmedrs28933981
geneviewrs28933981
scholarrs28933981
googlers28933981
pharmgkbrs28933981
gwascentralrs28933981
openSNPrs28933981
23andMers28933981
23andMe allrs28933981
SNP Nexus

SNPshotrs28933981
SNPdbers28933981
MSV3drs28933981
GWAS Ctlgrs28933981
GMAF0.001837
Max Magnitude0
OMIM176300
DescPREALBUMIN CHICAGO
Variant0018
Relatedalso
Neighborrs28933982
Distance30
Neighborrs28933980
Distance8
ClinVar
Risk rs28933981(T;T)
Alt rs28933981(T;T)
Reference rs28933981(C;C)
Significance Other
Disease AMYLOIDOSIS not specified
Variation info
Gene TTR
CLNDBN AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF not specified
Reversed 0
HGVS NC_000018.9:g.29178610C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014376.18, RCV000036376.3,


GET Evidence
TTR-T139M
aa_change Thr139Met
aa_change_short T139M
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.00241681
summary This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect.