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rs104894665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894665(C;C)
Make rs104894665(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31593017
GeneTTR
is asnp
is mentioned by
dbSNPrs104894665
ebirs104894665
HLIrs104894665
Exacrs104894665
Varsomers104894665
Maprs104894665
PheGenIrs104894665
hapmaprs104894665
1000 genomesrs104894665
hgdprs104894665
ensemblrs104894665
gopubmedrs104894665
geneviewrs104894665
scholarrs104894665
googlers104894665
pharmgkbrs104894665
gwascentralrs104894665
openSNPrs104894665
23andMers104894665
23andMe allrs104894665
SNP Nexus

SNPshotrs104894665
SNPdbers104894665
MSV3drs104894665
GWAS Ctlgrs104894665
Max Magnitude0
OMIM176300
Desc
Variant0045
Relatedalso
OMIM176300
Desc
Variant0048
Relatedalso
ClinVar
Risk rs104894665(C;C)
Alt rs104894665(C;C)
Reference rs104894665(T;T)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
Reversed 0
HGVS NC_000018.9:g.29172980T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014403.24, RCV000014406.18,