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rs121918068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5.5 TTR-related amyloidosis
(C;T) 5.5 TTR-related amyloidosis
(T;T) 0 common in clinvar


Make rs121918068(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592983
GeneTTR
is asnp
is mentioned by
dbSNPrs121918068
dbSNP (classic)rs121918068
ClinGenrs121918068
ebirs121918068
HLIrs121918068
Exacrs121918068
Gnomadrs121918068
Varsomers121918068
LitVarrs121918068
Maprs121918068
PheGenIrs121918068
Biobankrs121918068
1000 genomesrs121918068
hgdprs121918068
ensemblrs121918068
geneviewrs121918068
scholarrs121918068
googlers121918068
pharmgkbrs121918068
gwascentralrs121918068
openSNPrs121918068
23andMers121918068
SNPshotrs121918068
SNPdbers121918068
MSV3drs121918068
GWAS Ctlgrs121918068
Max Magnitude5.5
OMIM176300
Desc
Variant0002
Relatedalso
OMIM176300
Desc
Variant0040
Relatedalso
ClinVar
Risk rs121918068(A;A) rs121918068(C;C)
Alt rs121918068(A;A) rs121918068(C;C)
Reference Rs121918068(T;T)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29172946T>A; NC_000018.9:g.29172946T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014360.27, RCV000014398.25,