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rs2853579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2853579(A;A)
Make rs2853579(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position104828991
GeneABCA1
is asnp
is mentioned by
dbSNPrs2853579
dbSNP (classic)rs2853579
ClinGenrs2853579
ebirs2853579
HLIrs2853579
Exacrs2853579
Gnomadrs2853579
Varsomers2853579
LitVarrs2853579
Maprs2853579
PheGenIrs2853579
Biobankrs2853579
1000 genomesrs2853579
hgdprs2853579
ensemblrs2853579
geneviewrs2853579
scholarrs2853579
googlers2853579
pharmgkbrs2853579
gwascentralrs2853579
openSNPrs2853579
23andMers2853579
SNPshotrs2853579
SNPdbers2853579
MSV3drs2853579
GWAS Ctlgrs2853579
Merged fromRs7031748
GMAF0.3531
Max Magnitude0
? (A;A) (A;C) (C;C) 28


ClinVar
Risk rs2853579(A;A)
Alt rs2853579(A;A)
Reference Rs2853579(C;C)
Significance Non-pathogenic
Disease Tangier disease Familial High Density Lipoprotein Deficiency
Variation info
Gene ABCA1
CLNDBN Tangier disease Familial High Density Lipoprotein Deficiency
Reversed 1
HGVS NC_000009.11:g.107591272G>T
CLNSRC
CLNACC RCV000300380.1, RCV000395968.1,