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rs766243954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a hypobetalipoproteinemia mutation
(C;C) 0 common in clinvar


Make rs766243954(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position21038086
GeneAPOB
is asnp
is mentioned by
dbSNPrs766243954
dbSNP (classic)rs766243954
ClinGenrs766243954
ebirs766243954
HLIrs766243954
Exacrs766243954
Gnomadrs766243954
Varsomers766243954
LitVarrs766243954
Maprs766243954
PheGenIrs766243954
Biobankrs766243954
1000 genomesrs766243954
hgdprs766243954
ensemblrs766243954
geneviewrs766243954
scholarrs766243954
googlers766243954
pharmgkbrs766243954
gwascentralrs766243954
openSNPrs766243954
23andMers766243954
23andMe allrs766243954
SNPshotrs766243954
SNPdbers766243954
MSV3drs766243954
GWAS Ctlgrs766243954
Max Magnitude3
ClinVar
Risk rs766243954(A;A)
Alt rs766243954(A;A)
Reference Rs766243954(C;C)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia, familial, 1
Reversed 0
HGVS NC_000002.11:g.21260958C>A
CLNSRC
CLNACC RCV000470253.1,