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rs28933979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 TTR-related familial amyloid polyneuropathy
(A;G) 4 TTR-related familial amyloid polyneuropathy
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome18
Position31592974
GeneTTR
is asnp
is mentioned by
dbSNPrs28933979
ebirs28933979
HLIrs28933979
Exacrs28933979
Varsomers28933979
Maprs28933979
PheGenIrs28933979
hapmaprs28933979
1000 genomesrs28933979
hgdprs28933979
ensemblrs28933979
gopubmedrs28933979
geneviewrs28933979
scholarrs28933979
googlers28933979
pharmgkbrs28933979
gwascentralrs28933979
openSNPrs28933979
23andMers28933979
23andMe allrs28933979
SNP Nexus

SNPshotrs28933979
SNPdbers28933979
MSV3drs28933979
GWAS Ctlgrs28933979
Max Magnitude4

rs28933979, also known as V30M, V50M, Val30Met, Val50Met and 148G>A, is a mutation in the transthyretin TTR gene.

The risk allele for this SNP, rs28933979(A), is considered causative for TTR-related familial amyloid polyneuropathy, with the majority of carriers developing the condition by the time they are 80, although the age of onset varies. This mutation is reported to be more common in Portugal as well as Sweden and Japan.

OMIM176300
DescAMYLOID POLYNEUROPATHY, ANDRADE OR PORTUGUESE TYPE
Variant0001
Relatedalso
Neighborrs1800458
Distance72
Neighborrs28933983
Distance2196
OMIM176300
Desc
Variant0024
Relatedalso
ClinVar
Risk rs28933979(A,C;A,C)
Alt rs28933979(A,C;A,C)
Reference rs28933979(G;G)
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.29172937G>A; NC_000018.9:g.29172937G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014359.29, RCV000159423.2, RCV000014382.25,