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rs137854502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854502(A;A)
Make rs137854502(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position104831098
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854502
ebirs137854502
HLIrs137854502
Exacrs137854502
Varsomers137854502
Maprs137854502
PheGenIrs137854502
hapmaprs137854502
1000 genomesrs137854502
hgdprs137854502
ensemblrs137854502
gopubmedrs137854502
geneviewrs137854502
scholarrs137854502
googlers137854502
pharmgkbrs137854502
gwascentralrs137854502
openSNPrs137854502
23andMers137854502
23andMe allrs137854502
SNP Nexus

SNPshotrs137854502
SNPdbers137854502
MSV3drs137854502
GWAS Ctlgrs137854502
Max Magnitude0
OMIM600046
Desc
Variant0023
Relatedalso
ClinVar
Risk rs137854502(A;A)
Alt rs137854502(A;A)
Reference rs137854502(C;C)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107593379G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010113.4,