rs121918390

Orientation

minus

Stabilized

minus

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

Make rs121918390(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21009304

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918390
dbSNP (classic)	rs121918390
ClinGen	rs121918390
ebi	rs121918390
HLI	rs121918390
Exac	rs121918390
Gnomad	rs121918390
Varsome	rs121918390
LitVar	rs121918390
Map	rs121918390
PheGenI	rs121918390
Biobank	rs121918390
1000 genomes	rs121918390
hgdp	rs121918390
ensembl	rs121918390
geneview	rs121918390
scholar	rs121918390
google	rs121918390
pharmgkb	rs121918390
gwascentral	rs121918390
openSNP	rs121918390
23andMe	rs121918390
SNPshot	rs121918390
SNPdbe	rs121918390
MSV3d	rs121918390
GWAS Ctlg	rs121918390

Max Magnitude

3

OMIM	107730
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121918390(T;T)
Alt	rs121918390(T;T)
Reference	Rs121918390(C;C)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21232176G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019484.27,