Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.5 TTR-related amyloidosis
(G;G) 0 common in clinvar


Make rs121918082(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595244
GeneTTR
is asnp
is mentioned by
dbSNPrs121918082
dbSNP (classic)rs121918082
ClinGenrs121918082
ebirs121918082
HLIrs121918082
Exacrs121918082
Gnomadrs121918082
Varsomers121918082
LitVarrs121918082
Maprs121918082
PheGenIrs121918082
Biobankrs121918082
1000 genomesrs121918082
hgdprs121918082
ensemblrs121918082
geneviewrs121918082
scholarrs121918082
googlers121918082
pharmgkbrs121918082
gwascentralrs121918082
openSNPrs121918082
23andMers121918082
SNPshotrs121918082
SNPdbers121918082
MSV3drs121918082
GWAS Ctlgrs121918082
Max Magnitude5.5
OMIM176300
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121918082(C;C)
Alt rs121918082(C;C)
Reference Rs121918082(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.29175207G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014384.17, RCV000236028.1,