rs544453230

Orientation

plus

Stabilized

plus

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

Make rs544453230(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11110714

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs544453230
dbSNP (classic)	rs544453230
ClinGen	rs544453230
ebi	rs544453230
HLI	rs544453230
Exac	rs544453230
Gnomad	rs544453230
Varsome	rs544453230
LitVar	rs544453230
Map	rs544453230
PheGenI	rs544453230
Biobank	rs544453230
1000 genomes	rs544453230
hgdp	rs544453230
ensembl	rs544453230
geneview	rs544453230
scholar	rs544453230
google	rs544453230
pharmgkb	rs544453230
gwascentral	rs544453230
openSNP	rs544453230
23andMe	rs544453230
SNPshot	rs544453230
SNPdbe	rs544453230
MSV3d	rs544453230
GWAS Ctlg	rs544453230

Max Magnitude

5

aka c.1003G>A, p.Gly335Ser or G335S

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

23andMe name for c.1003G>A: i6014229

ClinVar
Risk	rs544453230(A;A) rs544453230(C;C)
Alt	rs544453230(A;A) rs544453230(C;C)
Reference	Rs544453230(G;G)
Significance	Other
Disease	not provided not specified Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	not provided not specified Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221390G>A
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000161976.3, RCV000215066.1, RCV000238015.3,