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rs11541796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.5 TTR-related amyloidosis
Make rs11541796(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position31593011
GeneTTR
is asnp
is mentioned by
dbSNPrs11541796
dbSNP (classic)rs11541796
ClinGenrs11541796
ebirs11541796
HLIrs11541796
Exacrs11541796
Gnomadrs11541796
Varsomers11541796
LitVarrs11541796
Maprs11541796
PheGenIrs11541796
Biobankrs11541796
1000 genomesrs11541796
hgdprs11541796
ensemblrs11541796
geneviewrs11541796
scholarrs11541796
googlers11541796
pharmgkbrs11541796
gwascentralrs11541796
openSNPrs11541796
23andMers11541796
SNPshotrs11541796
SNPdbers11541796
MSV3drs11541796
GWAS Ctlgrs11541796
Max Magnitude5.5
OMIM176300
Desc
Variant0012
Relatedalso
ClinVar
Risk rs11541796(G;G)
Alt rs11541796(G;G)
Reference Rs11541796(A;A)
Significance Pathogenic
Disease Amyloidogenic transthyretin amyloidosis
Variation info
Gene TTR
CLNDBN Amyloidogenic transthyretin amyloidosis
Reversed 0
HGVS NC_000018.9:g.29172974A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014370.17,