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rs121918086

From SNPedia

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


Make rs121918086(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595160
GeneTTR
is asnp
is mentioned by
dbSNPrs121918086
dbSNP (classic)rs121918086
ClinGenrs121918086
ebirs121918086
HLIrs121918086
Exacrs121918086
Gnomadrs121918086
Varsomers121918086
LitVarrs121918086
Maprs121918086
PheGenIrs121918086
Biobankrs121918086
1000 genomesrs121918086
hgdprs121918086
ensemblrs121918086
geneviewrs121918086
scholarrs121918086
googlers121918086
pharmgkbrs121918086
gwascentralrs121918086
openSNPrs121918086
23andMers121918086
SNPshotrs121918086
SNPdbers121918086
MSV3drs121918086
GWAS Ctlgrs121918086
Max Magnitude5.5
OMIM176300
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121918086(A;A)
Alt rs121918086(A;A)
Reference Rs121918086(G;G)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29175123G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014389.23,