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rs121913549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913549(A;A)
Make rs121913549(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position69350194
GeneLYZ
is asnp
is mentioned by
dbSNPrs121913549
dbSNP (classic)rs121913549
ClinGenrs121913549
ebirs121913549
HLIrs121913549
Exacrs121913549
Gnomadrs121913549
Varsomers121913549
LitVarrs121913549
Maprs121913549
PheGenIrs121913549
Biobankrs121913549
1000 genomesrs121913549
hgdprs121913549
ensemblrs121913549
geneviewrs121913549
scholarrs121913549
googlers121913549
pharmgkbrs121913549
gwascentralrs121913549
openSNPrs121913549
23andMers121913549
SNPshotrs121913549
SNPdbers121913549
MSV3drs121913549
GWAS Ctlgrs121913549
Max Magnitude0
OMIM153450
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913549(A;A)
Alt rs121913549(A;A)
Reference Rs121913549(T;T)
Significance Pathogenic
Disease Familial visceral amyloidosis
Variation info
Gene LYZ
CLNDBN Familial visceral amyloidosis, Ostertag type
Reversed 0
HGVS NC_000012.11:g.69743974T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015453.27,