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rs137854500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854500(A;A)
Make rs137854500(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104814154
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854500
dbSNP (classic)rs137854500
ClinGenrs137854500
ebirs137854500
HLIrs137854500
Exacrs137854500
Gnomadrs137854500
Varsomers137854500
LitVarrs137854500
Maprs137854500
PheGenIrs137854500
Biobankrs137854500
1000 genomesrs137854500
hgdprs137854500
ensemblrs137854500
geneviewrs137854500
scholarrs137854500
googlers137854500
pharmgkbrs137854500
gwascentralrs137854500
openSNPrs137854500
23andMers137854500
SNPshotrs137854500
SNPdbers137854500
MSV3drs137854500
GWAS Ctlgrs137854500
Max Magnitude0
OMIM600046
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137854500(A;A)
Alt rs137854500(A;A)
Reference Rs137854500(G;G)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107576435C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010111.4,