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rs121918076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918076(G;G)
Make rs121918076(G;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595129
GeneTTR
is asnp
is mentioned by
dbSNPrs121918076
ebirs121918076
HLIrs121918076
Exacrs121918076
Varsomers121918076
Maprs121918076
PheGenIrs121918076
hapmaprs121918076
1000 genomesrs121918076
hgdprs121918076
ensemblrs121918076
gopubmedrs121918076
geneviewrs121918076
scholarrs121918076
googlers121918076
pharmgkbrs121918076
gwascentralrs121918076
openSNPrs121918076
23andMers121918076
23andMe allrs121918076
SNP Nexus

SNPshotrs121918076
SNPdbers121918076
MSV3drs121918076
GWAS Ctlgrs121918076
Max Magnitude0
OMIM176300
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918076(A,G;A,G)
Alt rs121918076(A,G;A,G)
Reference rs121918076(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.29175092T>A; NC_000018.9:g.29175092T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030572.1, RCV000159425.1, RCV000014371.25,