rs121918391

Orientation

minus

Stabilized

minus

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

Make rs121918391(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21015169

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918391
dbSNP (classic)	rs121918391
ClinGen	rs121918391
ebi	rs121918391
HLI	rs121918391
Exac	rs121918391
Gnomad	rs121918391
Varsome	rs121918391
LitVar	rs121918391
Map	rs121918391
PheGenI	rs121918391
Biobank	rs121918391
1000 genomes	rs121918391
hgdp	rs121918391
ensembl	rs121918391
geneview	rs121918391
scholar	rs121918391
google	rs121918391
pharmgkb	rs121918391
gwascentral	rs121918391
openSNP	rs121918391
23andMe	rs121918391
SNPshot	rs121918391
SNPdbe	rs121918391
MSV3d	rs121918391
GWAS Ctlg	rs121918391

Max Magnitude

3

OMIM	107730
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121918391(A;A)
Alt	rs121918391(A;A)
Reference	Rs121918391(T;T)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Hypobetalipoproteinemia, normotriglyceridemic
Reversed	1
HGVS	NC_000002.11:g.21238041A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019490.27,