rs121918388

Orientation

minus

Stabilized

minus

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

Make rs121918388(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21010033

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918388
dbSNP (classic)	rs121918388
ClinGen	rs121918388
ebi	rs121918388
HLI	rs121918388
Exac	rs121918388
Gnomad	rs121918388
Varsome	rs121918388
LitVar	rs121918388
Map	rs121918388
PheGenI	rs121918388
Biobank	rs121918388
1000 genomes	rs121918388
hgdp	rs121918388
ensembl	rs121918388
geneview	rs121918388
scholar	rs121918388
google	rs121918388
pharmgkb	rs121918388
gwascentral	rs121918388
openSNP	rs121918388
23andMe	rs121918388
SNPshot	rs121918388
SNPdbe	rs121918388
MSV3d	rs121918388
GWAS Ctlg	rs121918388

Max Magnitude

3

OMIM	107730
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121918388(T;T)
Alt	rs121918388(T;T)
Reference	Rs121918388(C;C)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Hypobetalipoproteinemia, normotriglyceridemic
Reversed	1
HGVS	NC_000002.11:g.21232905G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019482.26,