rs730880052

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	5	Familial Hypercholesterolemia
(C;C)	0	common in clinvar

Make rs730880052(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

21006681

Gene

APOB

is a	snp
is	mentioned by
dbSNP	rs730880052
dbSNP (classic)	rs730880052
ClinGen	rs730880052
ebi	rs730880052
HLI	rs730880052
Exac	rs730880052
Gnomad	rs730880052
Varsome	rs730880052
LitVar	rs730880052
Map	rs730880052
PheGenI	rs730880052
Biobank	rs730880052
1000 genomes	rs730880052
hgdp	rs730880052
ensembl	rs730880052
geneview	rs730880052
scholar	rs730880052
google	rs730880052
pharmgkb	rs730880052
gwascentral	rs730880052
openSNP	rs730880052
23andMe	rs730880052
SNPshot	rs730880052
SNPdbe	rs730880052
MSV3d	rs730880052
GWAS Ctlg	rs730880052

Max Magnitude

5

aka c.10187C>A (p.Ala3396Asp)

ClinVar
Risk	rs730880052(A;A)
Alt	rs730880052(A;A)
Reference	Rs730880052(C;C)
Significance	Probable-Pathogenic
Disease	Hypercholesterolemia
Variation	info
Gene	APOB
CLNDBN	Hypercholesterolemia, autosomal dominant, type B
Reversed	1
HGVS	NC_000002.11:g.21229553G>T
CLNSRC
CLNACC	RCV000157117.1,