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rs121918090

From SNPedia

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


Make rs121918090(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31593026
GeneTTR
is asnp
is mentioned by
dbSNPrs121918090
dbSNP (classic)rs121918090
ClinGenrs121918090
ebirs121918090
HLIrs121918090
Exacrs121918090
Gnomadrs121918090
Varsomers121918090
LitVarrs121918090
Maprs121918090
PheGenIrs121918090
Biobankrs121918090
1000 genomesrs121918090
hgdprs121918090
ensemblrs121918090
geneviewrs121918090
scholarrs121918090
googlers121918090
pharmgkbrs121918090
gwascentralrs121918090
openSNPrs121918090
23andMers121918090
SNPshotrs121918090
SNPdbers121918090
MSV3drs121918090
GWAS Ctlgrs121918090
Max Magnitude5.5
OMIM176300
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121918090(C;C)
Alt rs121918090(C;C)
Reference Rs121918090(G;G)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29172989G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014393.24,