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rs28937313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28937313(A;G)
Make rs28937313(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104822520
GeneABCA1
is asnp
is mentioned by
dbSNPrs28937313
ebirs28937313
HLIrs28937313
Exacrs28937313
Varsomers28937313
Maprs28937313
PheGenIrs28937313
hapmaprs28937313
1000 genomesrs28937313
hgdprs28937313
ensemblrs28937313
gopubmedrs28937313
geneviewrs28937313
scholarrs28937313
googlers28937313
pharmgkbrs28937313
gwascentralrs28937313
openSNPrs28937313
23andMers28937313
23andMe allrs28937313
SNP Nexus

SNPshotrs28937313
SNPdbers28937313
MSV3drs28937313
GWAS Ctlgrs28937313
Max Magnitude0
OMIM600046
DescTANGIER DISEASE
Variant0014
Relatedalso
Neighborrs28937314
Distance1


ClinVar
Risk rs28937313(G;G)
Alt rs28937313(G;G)
Reference rs28937313(A;A)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107584801T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010096.5,