rs121918383

Orientation

minus

Stabilized

minus

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

Make rs121918383(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21013379

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918383
dbSNP (classic)	rs121918383
ClinGen	rs121918383
ebi	rs121918383
HLI	rs121918383
Exac	rs121918383
Gnomad	rs121918383
Varsome	rs121918383
LitVar	rs121918383
Map	rs121918383
PheGenI	rs121918383
Biobank	rs121918383
1000 genomes	rs121918383
hgdp	rs121918383
ensembl	rs121918383
geneview	rs121918383
scholar	rs121918383
google	rs121918383
pharmgkb	rs121918383
gwascentral	rs121918383
openSNP	rs121918383
23andMe	rs121918383
SNPshot	rs121918383
SNPdbe	rs121918383
MSV3d	rs121918383
GWAS Ctlg	rs121918383

Max Magnitude

3

OMIM	107730
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918383(G;G) rs121918383(T;T)
Alt	rs121918383(G;G) rs121918383(T;T)
Reference	Rs121918383(C;C)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21236251G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019472.26,