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rs121918070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 TTR-related familial amyloid polyneuropathy
(G;G) 4 TTR-related familial amyloid polyneuropathy
ReferenceGRCh38 38.1/141
Chromosome18
Position31595157
GeneTTR
is asnp
is mentioned by
dbSNPrs121918070
ebirs121918070
HLIrs121918070
Exacrs121918070
Varsomers121918070
Maprs121918070
PheGenIrs121918070
hapmaprs121918070
1000 genomesrs121918070
hgdprs121918070
ensemblrs121918070
gopubmedrs121918070
geneviewrs121918070
scholarrs121918070
googlers121918070
pharmgkbrs121918070
gwascentralrs121918070
openSNPrs121918070
23andMers121918070
23andMe allrs121918070
SNP Nexus

SNPshotrs121918070
SNPdbers121918070
MSV3drs121918070
GWAS Ctlgrs121918070
Max Magnitude4

rs121918070, also known as Thr60Ala, Thr80Ala, T60A, T80A, and 238A>G, is a mutation in the transthyretin TTR gene.

The risk allele for this SNP, rs121918070(G), is considered causative for TTR-related familial amyloid polyneuropathy, often manifesting as heart-related symptoms, in those carrying either one or two copies.

OMIM176300
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918070(G;G)
Alt rs121918070(G;G)
Reference rs121918070(A;A)
Significance Other
Disease Amyloidogenic transthyretin amyloidosis not provided
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis not provided
Reversed 0
HGVS NC_000018.9:g.29175120A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014363.30, RCV000159427.2,