rs121908037

Orientation

plus

Stabilized

plus

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

Make rs121908037(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11129654

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908037
dbSNP (classic)	rs121908037
ClinGen	rs121908037
ebi	rs121908037
HLI	rs121908037
Exac	rs121908037
Gnomad	rs121908037
Varsome	rs121908037
LitVar	rs121908037
Map	rs121908037
PheGenI	rs121908037
Biobank	rs121908037
1000 genomes	rs121908037
hgdp	rs121908037
ensembl	rs121908037
geneview	rs121908037
scholar	rs121908037
google	rs121908037
pharmgkb	rs121908037
gwascentral	rs121908037
openSNP	rs121908037
23andMe	rs121908037
SNPshot	rs121908037
SNPdbe	rs121908037
MSV3d	rs121908037
GWAS Ctlg	rs121908037

Max Magnitude

5

aka c.2531G>A, p.Gly844Asp or G844D; also known as FH Turku

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

OMIM	606945
Desc
Variant	0052
Related	also

ClinVar
Risk	rs121908037(A;A)
Alt	rs121908037(A;A)
Reference	Rs121908037(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240330G>A
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003932.5,