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rs137854499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854499(C;C)
Make rs137854499(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104788469
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854499
dbSNP (classic)rs137854499
ClinGenrs137854499
ebirs137854499
HLIrs137854499
Exacrs137854499
Gnomadrs137854499
Varsomers137854499
LitVarrs137854499
Maprs137854499
PheGenIrs137854499
Biobankrs137854499
1000 genomesrs137854499
hgdprs137854499
ensemblrs137854499
geneviewrs137854499
scholarrs137854499
googlers137854499
pharmgkbrs137854499
gwascentralrs137854499
openSNPrs137854499
23andMers137854499
SNPshotrs137854499
SNPdbers137854499
MSV3drs137854499
GWAS Ctlgrs137854499
Max Magnitude0
OMIM600046
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137854499(C;C)
Alt rs137854499(C;C)
Reference Rs137854499(T;T)
Significance Pathogenic
Disease Familial hypoalphalipoproteinemia
Variation info
Gene ABCA1
CLNDBN Familial hypoalphalipoproteinemia
Reversed 1
HGVS NC_000009.11:g.107550750A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010110.5,