rs121908035

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 rs121908035(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105599

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908035
dbSNP (classic)	rs121908035
ClinGen	rs121908035
ebi	rs121908035
HLI	rs121908035
Exac	rs121908035
Gnomad	rs121908035
Varsome	rs121908035
LitVar	rs121908035
Map	rs121908035
PheGenI	rs121908035
Biobank	rs121908035
1000 genomes	rs121908035
hgdp	rs121908035
ensembl	rs121908035
geneview	rs121908035
scholar	rs121908035
google	rs121908035
pharmgkb	rs121908035
gwascentral	rs121908035
openSNP	rs121908035
23andMe	rs121908035
SNPshot	rs121908035
SNPdbe	rs121908035
MSV3d	rs121908035
GWAS Ctlg	rs121908035

Max Magnitude

5

aka c.693C>A, p.Cys231Ter or C231X; also known as FH London 3

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

OMIM	606945
Desc
Variant	0048
Related	also

ClinVar
Risk	rs121908035(A;A) rs121908035(G;G)
Alt	rs121908035(A;A) rs121908035(G;G)
Reference	Rs121908035(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216275C>A; NC_000019.9:g.11216275C>G
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003928.7, RCV000237820.2,