rs121908028

Orientation

plus

Stabilized

plus

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

Make rs121908028(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105587

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908028
dbSNP (classic)	rs121908028
ClinGen	rs121908028
ebi	rs121908028
HLI	rs121908028
Exac	rs121908028
Gnomad	rs121908028
Varsome	rs121908028
LitVar	rs121908028
Map	rs121908028
PheGenI	rs121908028
Biobank	rs121908028
1000 genomes	rs121908028
hgdp	rs121908028
ensembl	rs121908028
geneview	rs121908028
scholar	rs121908028
google	rs121908028
pharmgkb	rs121908028
gwascentral	rs121908028
openSNP	rs121908028
23andMe	rs121908028
SNPshot	rs121908028
SNPdbe	rs121908028
MSV3d	rs121908028
GWAS Ctlg	rs121908028

Max Magnitude

5

aka c.681C>G, p.Asp227Glu or D227E; also known as FH Afrikaner 1 and FH Maine

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

OMIM	606945
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908028(A;A) rs121908028(G;G) rs121908028(T;T)
Alt	rs121908028(A;A) rs121908028(G;G) rs121908028(T;T)
Reference	Rs121908028(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216263C>A; NC_000019.9:g.11216263C>G
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000455843.1, RCV000003876.9,