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rs267607160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5.5 TTR-related amyloidosis
Make rs267607160(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position31595189
GeneTTR
is asnp
is mentioned by
dbSNPrs267607160
dbSNP (classic)rs267607160
ClinGenrs267607160
ebirs267607160
HLIrs267607160
Exacrs267607160
Gnomadrs267607160
Varsomers267607160
LitVarrs267607160
Maprs267607160
PheGenIrs267607160
Biobankrs267607160
1000 genomesrs267607160
hgdprs267607160
ensemblrs267607160
geneviewrs267607160
scholarrs267607160
googlers267607160
pharmgkbrs267607160
gwascentralrs267607160
openSNPrs267607160
23andMers267607160
SNPshotrs267607160
SNPdbers267607160
MSV3drs267607160
GWAS Ctlgrs267607160
Max Magnitude5.5
ClinVar
Risk rs267607160(C;C)
Alt rs267607160(C;C)
Reference Rs267607160(A;A)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29175152A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014385.25,