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rs137854501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854501(C;T)
Make rs137854501(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104786940
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854501
ebirs137854501
HLIrs137854501
Exacrs137854501
Varsomers137854501
Maprs137854501
PheGenIrs137854501
hapmaprs137854501
1000 genomesrs137854501
hgdprs137854501
ensemblrs137854501
gopubmedrs137854501
geneviewrs137854501
scholarrs137854501
googlers137854501
pharmgkbrs137854501
gwascentralrs137854501
openSNPrs137854501
23andMers137854501
23andMe allrs137854501
SNP Nexus

SNPshotrs137854501
SNPdbers137854501
MSV3drs137854501
GWAS Ctlgrs137854501
Max Magnitude0
OMIM600046
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137854501(T;T)
Alt rs137854501(T;T)
Reference rs137854501(C;C)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107549221G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010102.5,