rs121918384

Orientation

minus

Stabilized

minus

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

Make rs121918384(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

21011301

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs121918384
dbSNP (classic)	rs121918384
ClinGen	rs121918384
ebi	rs121918384
HLI	rs121918384
Exac	rs121918384
Gnomad	rs121918384
Varsome	rs121918384
LitVar	rs121918384
Map	rs121918384
PheGenI	rs121918384
Biobank	rs121918384
1000 genomes	rs121918384
hgdp	rs121918384
ensembl	rs121918384
geneview	rs121918384
scholar	rs121918384
google	rs121918384
pharmgkb	rs121918384
gwascentral	rs121918384
openSNP	rs121918384
23andMe	rs121918384
SNPshot	rs121918384
SNPdbe	rs121918384
MSV3d	rs121918384
GWAS Ctlg	rs121918384

Max Magnitude

3

OMIM	107730
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918384(-;-)
Alt	rs121918384(-;-)
Reference	Rs121918384(GT;GT)
Significance	Pathogenic
Disease	Familial hypobetalipoproteinemia
Variation	info
Gene	APOB
CLNDBN	Familial hypobetalipoproteinemia
Reversed	1
HGVS	NC_000002.11:g.21234173_21234174delAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019473.27,