rs121918386

Orientation

minus

Stabilized

minus

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

Make rs121918386(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21010615

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918386
dbSNP (classic)	rs121918386
ClinGen	rs121918386
ebi	rs121918386
HLI	rs121918386
Exac	rs121918386
Gnomad	rs121918386
Varsome	rs121918386
LitVar	rs121918386
Map	rs121918386
PheGenI	rs121918386
Biobank	rs121918386
1000 genomes	rs121918386
hgdp	rs121918386
ensembl	rs121918386
geneview	rs121918386
scholar	rs121918386
google	rs121918386
pharmgkb	rs121918386
gwascentral	rs121918386
openSNP	rs121918386
23andMe	rs121918386
SNPshot	rs121918386
SNPdbe	rs121918386
MSV3d	rs121918386
GWAS Ctlg	rs121918386

Max Magnitude

3

OMIM	107730
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918386(T;T)
Alt	rs121918386(T;T)
Reference	Rs121918386(C;C)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21233487G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019476.26,