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rs121918085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918085(A;T)
Make rs121918085(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595181
GeneTTR
is asnp
is mentioned by
dbSNPrs121918085
dbSNP (classic)rs121918085
ClinGenrs121918085
ebirs121918085
HLIrs121918085
Exacrs121918085
Gnomadrs121918085
Varsomers121918085
LitVarrs121918085
Maprs121918085
PheGenIrs121918085
Biobankrs121918085
1000 genomesrs121918085
hgdprs121918085
ensemblrs121918085
geneviewrs121918085
scholarrs121918085
googlers121918085
pharmgkbrs121918085
gwascentralrs121918085
openSNPrs121918085
23andMers121918085
SNPshotrs121918085
SNPdbers121918085
MSV3drs121918085
GWAS Ctlgrs121918085
Max Magnitude0
OMIM176300
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121918085(T;T)
Alt rs121918085(T;T)
Reference Rs121918085(A;A)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29175144A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014388.25,