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rs137854498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854498(C;T)
Make rs137854498(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104798504
GeneABCA1
is asnp
is mentioned by
dbSNPrs137854498
ebirs137854498
HLIrs137854498
Exacrs137854498
Varsomers137854498
Maprs137854498
PheGenIrs137854498
hapmaprs137854498
1000 genomesrs137854498
hgdprs137854498
ensemblrs137854498
gopubmedrs137854498
geneviewrs137854498
scholarrs137854498
googlers137854498
pharmgkbrs137854498
gwascentralrs137854498
openSNPrs137854498
23andMers137854498
23andMe allrs137854498
SNP Nexus

SNPshotrs137854498
SNPdbers137854498
MSV3drs137854498
GWAS Ctlgrs137854498
Max Magnitude0
OMIM600046
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137854498(A,T;A,T)
Alt rs137854498(A,T;A,T)
Reference rs137854498(C;C)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease, variant
Reversed 1
HGVS NC_000009.11:g.107560785G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010108.4,