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rs121918098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 TTR-related amyloidosis
Make rs121918098(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592939
GeneTTR
is asnp
is mentioned by
dbSNPrs121918098
dbSNP (classic)rs121918098
ClinGenrs121918098
ebirs121918098
HLIrs121918098
Exacrs121918098
Gnomadrs121918098
Varsomers121918098
LitVarrs121918098
Maprs121918098
PheGenIrs121918098
Biobankrs121918098
1000 genomesrs121918098
hgdprs121918098
ensemblrs121918098
geneviewrs121918098
scholarrs121918098
googlers121918098
pharmgkbrs121918098
gwascentralrs121918098
openSNPrs121918098
23andMers121918098
SNPshotrs121918098
SNPdbers121918098
MSV3drs121918098
GWAS Ctlgrs121918098
Max Magnitude5.5
OMIM176300
Desc
Variant0047
Relatedalso
ClinVar
Risk rs121918098(G;G)
Alt rs121918098(G;G)
Reference Rs121918098(A;A)
Significance Pathogenic
Disease AMYLOIDOSIS Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29172902A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014405.18, RCV000036373.2,