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rs28937314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28937314(A;C)
Make rs28937314(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position104822521
GeneABCA1
is asnp
is mentioned by
dbSNPrs28937314
ebirs28937314
HLIrs28937314
Exacrs28937314
Varsomers28937314
Maprs28937314
PheGenIrs28937314
hapmaprs28937314
1000 genomesrs28937314
hgdprs28937314
ensemblrs28937314
gopubmedrs28937314
geneviewrs28937314
scholarrs28937314
googlers28937314
pharmgkbrs28937314
gwascentralrs28937314
openSNPrs28937314
23andMers28937314
23andMe allrs28937314
SNP Nexus

SNPshotrs28937314
SNPdbers28937314
MSV3drs28937314
GWAS Ctlgrs28937314
Max Magnitude0
OMIM600046
DescTANGIER DISEASE
Variant0015
Relatedalso
Neighborrs28937313
Distance1


ClinVar
Risk rs28937314(C;C)
Alt rs28937314(C;C)
Reference rs28937314(A;A)
Significance Pathogenic
Disease Tangier disease
Variation info
Gene ABCA1
CLNDBN Tangier disease
Reversed 1
HGVS NC_000009.11:g.107584802T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010106.3,