rs766243954

Orientation

plus

Stabilized

plus

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

Make rs766243954(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

21038086

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs766243954
dbSNP (classic)	rs766243954
ClinGen	rs766243954
ebi	rs766243954
HLI	rs766243954
Exac	rs766243954
Gnomad	rs766243954
Varsome	rs766243954
LitVar	rs766243954
Map	rs766243954
PheGenI	rs766243954
Biobank	rs766243954
1000 genomes	rs766243954
hgdp	rs766243954
ensembl	rs766243954
geneview	rs766243954
scholar	rs766243954
google	rs766243954
pharmgkb	rs766243954
gwascentral	rs766243954
openSNP	rs766243954
23andMe	rs766243954
SNPshot	rs766243954
SNPdbe	rs766243954
MSV3d	rs766243954
GWAS Ctlg	rs766243954

Max Magnitude

3

ClinVar
Risk	rs766243954(A;A)
Alt	rs766243954(A;A)
Reference	Rs766243954(C;C)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Hypobetalipoproteinemia, familial, 1
Reversed	0
HGVS	NC_000002.11:g.21260958C>A
CLNSRC
CLNACC	RCV000470253.1,