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rs121918083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918083(C;C)
Make rs121918083(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592914
GeneTTR
is asnp
is mentioned by
dbSNPrs121918083
ebirs121918083
HLIrs121918083
Exacrs121918083
Varsomers121918083
Maprs121918083
PheGenIrs121918083
hapmaprs121918083
1000 genomesrs121918083
hgdprs121918083
ensemblrs121918083
gopubmedrs121918083
geneviewrs121918083
scholarrs121918083
googlers121918083
pharmgkbrs121918083
gwascentralrs121918083
openSNPrs121918083
23andMers121918083
23andMe allrs121918083
SNP Nexus

SNPshotrs121918083
SNPdbers121918083
MSV3drs121918083
GWAS Ctlgrs121918083
Max Magnitude0
OMIM176300
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121918083(C;C)
Alt rs121918083(C;C)
Reference rs121918083(T;T)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis Cardiomyopathy
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis Cardiomyopathy
Reversed 0
HGVS NC_000018.9:g.29172877T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014386.27, RCV000159419.1,