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rs121912730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912730(C;C)
Make rs121912730(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position116836017
GeneAPOA1, APOA1-AS
is asnp
is mentioned by
dbSNPrs121912730
dbSNP (classic)rs121912730
ClinGenrs121912730
ebirs121912730
HLIrs121912730
Exacrs121912730
Gnomadrs121912730
Varsomers121912730
LitVarrs121912730
Maprs121912730
PheGenIrs121912730
Biobankrs121912730
1000 genomesrs121912730
hgdprs121912730
ensemblrs121912730
geneviewrs121912730
scholarrs121912730
googlers121912730
pharmgkbrs121912730
gwascentralrs121912730
openSNPrs121912730
23andMers121912730
SNPshotrs121912730
SNPdbers121912730
MSV3drs121912730
GWAS Ctlgrs121912730
Max Magnitude0
OMIM107680
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912730(A;A) rs121912730(C;C)
Alt rs121912730(A;A) rs121912730(C;C)
Reference Rs121912730(G;G)
Significance Pathogenic
Disease Familial visceral amyloidosis
Variation info
Gene APOA1-AS APOA1
CLNDBN Familial visceral amyloidosis, Ostertag type
Reversed 1
HGVS NC_000011.9:g.116706733C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019527.27,