rs121908040

Orientation

plus

Stabilized

plus

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

Make rs121908040(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11106652

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908040
dbSNP (classic)	rs121908040
ClinGen	rs121908040
ebi	rs121908040
HLI	rs121908040
Exac	rs121908040
Gnomad	rs121908040
Varsome	rs121908040
LitVar	rs121908040
Map	rs121908040
PheGenI	rs121908040
Biobank	rs121908040
1000 genomes	rs121908040
hgdp	rs121908040
ensembl	rs121908040
geneview	rs121908040
scholar	rs121908040
google	rs121908040
pharmgkb	rs121908040
gwascentral	rs121908040
openSNP	rs121908040
23andMe	rs121908040
SNPshot	rs121908040
SNPdbe	rs121908040
MSV3d	rs121908040
GWAS Ctlg	rs121908040

Max Magnitude

5

aka c.782G>T, p.Cys261Phe or C261F

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

OMIM	606945
Desc
Variant	0059
Related	also

ClinVar
Risk	rs121908040(A;A) rs121908040(T;T)
Alt	rs121908040(A;A) rs121908040(T;T)
Reference	Rs121908040(G;G)
Significance	Other
Disease	Familial hypercholesterolemia Hypercholesterolaemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia Hypercholesterolaemia
Reversed	0
HGVS	NC_000019.9:g.11217328G>A; NC_000019.9:g.11217328G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000417255.1, RCV000003938.3, RCV000148568.1,