rs397514256

Orientation

minus

Stabilized

minus

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

Make rs397514256(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21012516

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs397514256
dbSNP (classic)	rs397514256
ClinGen	rs397514256
ebi	rs397514256
HLI	rs397514256
Exac	rs397514256
Gnomad	rs397514256
Varsome	rs397514256
LitVar	rs397514256
Map	rs397514256
PheGenI	rs397514256
Biobank	rs397514256
1000 genomes	rs397514256
hgdp	rs397514256
ensembl	rs397514256
geneview	rs397514256
scholar	rs397514256
google	rs397514256
pharmgkb	rs397514256
gwascentral	rs397514256
openSNP	rs397514256
23andMe	rs397514256
SNPshot	rs397514256
SNPdbe	rs397514256
MSV3d	rs397514256
GWAS Ctlg	rs397514256

Max Magnitude

3

ClinVar
Risk	rs397514256(-;-)
Alt	rs397514256(-;-)
Reference	Rs397514256(G;G)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21235388delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019478.26,