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rs28933692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28933692(G;T)
Make rs28933692(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position104818830
GeneABCA1
is asnp
is mentioned by
dbSNPrs28933692
dbSNP (classic)rs28933692
ClinGenrs28933692
ebirs28933692
HLIrs28933692
Exacrs28933692
Gnomadrs28933692
Varsomers28933692
LitVarrs28933692
Maprs28933692
PheGenIrs28933692
Biobankrs28933692
1000 genomesrs28933692
hgdprs28933692
ensemblrs28933692
geneviewrs28933692
scholarrs28933692
googlers28933692
pharmgkbrs28933692
gwascentralrs28933692
openSNPrs28933692
23andMers28933692
SNPshotrs28933692
SNPdbers28933692
MSV3drs28933692
GWAS Ctlgrs28933692
Max Magnitude0
OMIM600046
DescHIGH DENSITY LIPOPROTEIN DEFICIENCY
Variant0018
Relatedalso


ClinVar
Risk rs28933692(A;A) rs28933692(T;T)
Alt rs28933692(A;A) rs28933692(T;T)
Reference Rs28933692(G;G)
Significance Pathogenic
Disease Familial hypoalphalipoproteinemia
Variation info
Gene ABCA1
CLNDBN Familial hypoalphalipoproteinemia
Reversed 1
HGVS NC_000009.11:g.107581111C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010109.2,