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rs121918100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918100(C;C)
Make rs121918100(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595184
GeneTTR
is asnp
is mentioned by
dbSNPrs121918100
dbSNP (classic)rs121918100
ClinGenrs121918100
ebirs121918100
HLIrs121918100
Exacrs121918100
Gnomadrs121918100
Varsomers121918100
LitVarrs121918100
Maprs121918100
PheGenIrs121918100
Biobankrs121918100
1000 genomesrs121918100
hgdprs121918100
ensemblrs121918100
geneviewrs121918100
scholarrs121918100
googlers121918100
pharmgkbrs121918100
gwascentralrs121918100
openSNPrs121918100
23andMers121918100
SNPshotrs121918100
SNPdbers121918100
MSV3drs121918100
GWAS Ctlgrs121918100
Max Magnitude0
OMIM176300
Desc
Variant0050
Relatedalso
ClinVar
Risk rs121918100(C;C)
Alt rs121918100(C;C)
Reference Rs121918100(T;T)
Significance Pathogenic
Disease AMYLOIDOSIS
Variation info
Gene TTR
CLNDBN AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Reversed 0
HGVS NC_000018.9:g.29175147T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014408.24,