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rs121918091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918091(C;C)
Make rs121918091(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595169
GeneTTR
is asnp
is mentioned by
dbSNPrs121918091
dbSNP (classic)rs121918091
ClinGenrs121918091
ebirs121918091
HLIrs121918091
Exacrs121918091
Gnomadrs121918091
Varsomers121918091
LitVarrs121918091
Maprs121918091
PheGenIrs121918091
Biobankrs121918091
1000 genomesrs121918091
hgdprs121918091
ensemblrs121918091
geneviewrs121918091
scholarrs121918091
googlers121918091
pharmgkbrs121918091
gwascentralrs121918091
openSNPrs121918091
23andMers121918091
SNPshotrs121918091
SNPdbers121918091
MSV3drs121918091
GWAS Ctlgrs121918091
Max Magnitude0
OMIM176300
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121918091(C;C)
Alt rs121918091(C;C)
Reference Rs121918091(T;T)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis not provided
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis not provided
Reversed 0
HGVS NC_000018.9:g.29175132T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014395.25, RCV000236623.1,