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rs137854495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854495(C;T)
Make rs137854495(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104822514
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854495
ebirs137854495
HLIrs137854495
Exacrs137854495
Varsomers137854495
Maprs137854495
PheGenIrs137854495
hapmaprs137854495
1000 genomesrs137854495
hgdprs137854495
ensemblrs137854495
gopubmedrs137854495
geneviewrs137854495
scholarrs137854495
googlers137854495
pharmgkbrs137854495
gwascentralrs137854495
openSNPrs137854495
23andMers137854495
23andMe allrs137854495
SNP Nexus

SNPshotrs137854495
SNPdbers137854495
MSV3drs137854495
GWAS Ctlgrs137854495
Max Magnitude0
OMIM600046
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854495(T;T)
Alt rs137854495(T;T)
Reference rs137854495(C;C)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107584795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010097.4,