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rs121913547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913547(C;C)
Make rs121913547(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position69350192
GeneLYZ
is asnp
is mentioned by
dbSNPrs121913547
ebirs121913547
HLIrs121913547
Exacrs121913547
Varsomers121913547
Maprs121913547
PheGenIrs121913547
hapmaprs121913547
1000 genomesrs121913547
hgdprs121913547
ensemblrs121913547
gopubmedrs121913547
geneviewrs121913547
scholarrs121913547
googlers121913547
pharmgkbrs121913547
gwascentralrs121913547
openSNPrs121913547
23andMers121913547
23andMe allrs121913547
SNP Nexus

SNPshotrs121913547
SNPdbers121913547
MSV3drs121913547
GWAS Ctlgrs121913547
Max Magnitude0
OMIM153450
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913547(C;C)
Alt rs121913547(C;C)
Reference rs121913547(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.69743972T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015450.25,