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rs104894664

From SNPedia

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


Make rs104894664(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position31592959
GeneTTR
is asnp
is mentioned by
dbSNPrs104894664
dbSNP (classic)rs104894664
ClinGenrs104894664
ebirs104894664
HLIrs104894664
Exacrs104894664
Gnomadrs104894664
Varsomers104894664
LitVarrs104894664
Maprs104894664
PheGenIrs104894664
Biobankrs104894664
1000 genomesrs104894664
hgdprs104894664
ensemblrs104894664
geneviewrs104894664
scholarrs104894664
googlers104894664
pharmgkbrs104894664
gwascentralrs104894664
openSNPrs104894664
23andMers104894664
SNPshotrs104894664
SNPdbers104894664
MSV3drs104894664
GWAS Ctlgrs104894664
Max Magnitude5.5
OMIM176300
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894664(A;A)
Alt rs104894664(A;A)
Reference Rs104894664(G;G)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29172922G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014379.23,