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rs387906536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906536(C;C)
Make rs387906536(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position69350215
GeneLYZ
is asnp
is mentioned by
dbSNPrs387906536
dbSNP (classic)rs387906536
ClinGenrs387906536
ebirs387906536
HLIrs387906536
Exacrs387906536
Gnomadrs387906536
Varsomers387906536
LitVarrs387906536
Maprs387906536
PheGenIrs387906536
Biobankrs387906536
1000 genomesrs387906536
hgdprs387906536
ensemblrs387906536
geneviewrs387906536
scholarrs387906536
googlers387906536
pharmgkbrs387906536
gwascentralrs387906536
openSNPrs387906536
23andMers387906536
SNPshotrs387906536
SNPdbers387906536
MSV3drs387906536
GWAS Ctlgrs387906536
Max Magnitude0
ClinVar
Risk rs387906536(A;A) rs387906536(C;C)
Alt rs387906536(A;A) rs387906536(C;C)
Reference Rs387906536(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.69743995T>A; NC_000012.11:g.69743995T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015454.21, RCV000015452.21,