rs121918389

Orientation

minus

Stabilized

minus

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

Make rs121918389(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21012439

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918389
dbSNP (classic)	rs121918389
ClinGen	rs121918389
ebi	rs121918389
HLI	rs121918389
Exac	rs121918389
Gnomad	rs121918389
Varsome	rs121918389
LitVar	rs121918389
Map	rs121918389
PheGenI	rs121918389
Biobank	rs121918389
1000 genomes	rs121918389
hgdp	rs121918389
ensembl	rs121918389
geneview	rs121918389
scholar	rs121918389
google	rs121918389
pharmgkb	rs121918389
gwascentral	rs121918389
openSNP	rs121918389
23andMe	rs121918389
SNPshot	rs121918389
SNPdbe	rs121918389
MSV3d	rs121918389
GWAS Ctlg	rs121918389

Max Magnitude

3

OMIM	107730
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918389(T;T)
Alt	rs121918389(T;T)
Reference	Rs121918389(C;C)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21235311G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019483.25,