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rs121918097

From SNPedia

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


Make rs121918097(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595137
GeneTTR
is asnp
is mentioned by
dbSNPrs121918097
dbSNP (classic)rs121918097
ClinGenrs121918097
ebirs121918097
HLIrs121918097
Exacrs121918097
Gnomadrs121918097
Varsomers121918097
LitVarrs121918097
Maprs121918097
PheGenIrs121918097
Biobankrs121918097
1000 genomesrs121918097
hgdprs121918097
ensemblrs121918097
geneviewrs121918097
scholarrs121918097
googlers121918097
pharmgkbrs121918097
gwascentralrs121918097
openSNPrs121918097
23andMers121918097
SNPshotrs121918097
SNPdbers121918097
MSV3drs121918097
GWAS Ctlgrs121918097
Max Magnitude5.5
OMIM176300
Desc
Variant0046
Relatedalso
ClinVar
Risk rs121918097(A;A)
Alt rs121918097(A;A)
Reference Rs121918097(G;G)
Significance Pathogenic
Disease AMYLOIDOSIS
Variation info
Gene TTR
CLNDBN AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Reversed 0
HGVS NC_000018.9:g.29175100G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014404.24,