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rs137854496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854496(C;C)
Make rs137854496(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104831048
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854496
dbSNP (classic)rs137854496
ClinGenrs137854496
ebirs137854496
HLIrs137854496
Exacrs137854496
Gnomadrs137854496
Varsomers137854496
LitVarrs137854496
Maprs137854496
PheGenIrs137854496
Biobankrs137854496
1000 genomesrs137854496
hgdprs137854496
ensemblrs137854496
geneviewrs137854496
scholarrs137854496
googlers137854496
pharmgkbrs137854496
gwascentralrs137854496
openSNPrs137854496
23andMers137854496
SNPshotrs137854496
SNPdbers137854496
MSV3drs137854496
GWAS Ctlgrs137854496
Max Magnitude0
OMIM600046
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854496(C;C) rs137854496(T;T)
Alt rs137854496(C;C) rs137854496(T;T)
Reference Rs137854496(G;G)
Significance Pathogenic
Disease Tangier disease ABCA1-Related Disorders
Variation info
Gene ABCA1
CLNDBN Tangier disease ABCA1-Related Disorders
Reversed 1
HGVS NC_000009.11:g.107593329C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010098.3, RCV000381095.1,