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rs121913548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913548(C;C)
Make rs121913548(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position69350224
GeneLYZ
is asnp
is mentioned by
dbSNPrs121913548
ebirs121913548
HLIrs121913548
Exacrs121913548
Varsomers121913548
Maprs121913548
PheGenIrs121913548
hapmaprs121913548
1000 genomesrs121913548
hgdprs121913548
ensemblrs121913548
gopubmedrs121913548
geneviewrs121913548
scholarrs121913548
googlers121913548
pharmgkbrs121913548
gwascentralrs121913548
openSNPrs121913548
23andMers121913548
23andMe allrs121913548
SNP Nexus

SNPshotrs121913548
SNPdbers121913548
MSV3drs121913548
GWAS Ctlgrs121913548
Max Magnitude0
OMIM153450
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913548(C;C)
Alt rs121913548(C;C)
Reference rs121913548(G;G)
Significance Pathogenic
Disease Familial visceral amyloidosis
Variation info
Gene LYZ
CLNDBN Familial visceral amyloidosis, Ostertag type
Reversed 0
HGVS NC_000012.11:g.69744004G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015451.24,