rs121918387

Orientation

minus

Stabilized

minus

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

Make rs121918387(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21007669

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918387
dbSNP (classic)	rs121918387
ClinGen	rs121918387
ebi	rs121918387
HLI	rs121918387
Exac	rs121918387
Gnomad	rs121918387
Varsome	rs121918387
LitVar	rs121918387
Map	rs121918387
PheGenI	rs121918387
Biobank	rs121918387
1000 genomes	rs121918387
hgdp	rs121918387
ensembl	rs121918387
geneview	rs121918387
scholar	rs121918387
google	rs121918387
pharmgkb	rs121918387
gwascentral	rs121918387
openSNP	rs121918387
23andMe	rs121918387
SNPshot	rs121918387
SNPdbe	rs121918387
MSV3d	rs121918387
GWAS Ctlg	rs121918387

Max Magnitude

3

OMIM	107730
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918387(-;-)
Alt	rs121918387(-;-)
Reference	Rs121918387(A;A)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21230541delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019481.26,