rs121908029

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in complete genomics
(G;T)	5	Familial Hypercholesterolemia

Make rs121908029(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105588

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908029
dbSNP (classic)	rs121908029
ClinGen	rs121908029
ebi	rs121908029
HLI	rs121908029
Exac	rs121908029
Gnomad	rs121908029
Varsome	rs121908029
LitVar	rs121908029
Map	rs121908029
PheGenI	rs121908029
Biobank	rs121908029
1000 genomes	rs121908029
hgdp	rs121908029
ensembl	rs121908029
geneview	rs121908029
scholar	rs121908029
google	rs121908029
pharmgkb	rs121908029
gwascentral	rs121908029
openSNP	rs121908029
23andMe	rs121908029
SNPshot	rs121908029
SNPdbe	rs121908029
MSV3d	rs121908029
GWAS Ctlg	rs121908029

Max Magnitude

5

aka c.682G>A, p.Glu228Lys or E228K; also known as FH Mexico and FH French Canadian 3 an additional variant is c.682G>T, p.Glu228Ter or E228X

The A variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

The T variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191 ]

OMIM	606945
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908029(A;A) rs121908029(C;C) rs121908029(T;T)
Alt	rs121908029(A;A) rs121908029(C;C) rs121908029(T;T)
Reference	Rs121908029(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216264G>A; NC_000019.9:g.11216264G>C; NC_000019.9:g.11216264G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003878.10, RCV000237530.1, RCV000211631.2,