rs121908042

plus

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

Make rs121908042(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105232

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908042
dbSNP (classic)	rs121908042
ClinGen	rs121908042
ebi	rs121908042
HLI	rs121908042
Exac	rs121908042
Gnomad	rs121908042
Varsome	rs121908042
LitVar	rs121908042
Map	rs121908042
PheGenI	rs121908042
Biobank	rs121908042
1000 genomes	rs121908042
hgdp	rs121908042
ensembl	rs121908042
geneview	rs121908042
scholar	rs121908042
google	rs121908042
pharmgkb	rs121908042
gwascentral	rs121908042
openSNP	rs121908042
23andMe	rs121908042
SNPshot	rs121908042
SNPdbe	rs121908042
MSV3d	rs121908042
GWAS Ctlg	rs121908042

Max Magnitude

5

aka c.326G>C, p.Cys109Ser or C109S; and also known c.326G>A, p.Cys109Tyr or C109Y

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

The A 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	0062
Related	also

ClinVar
Risk	rs121908042(A;A) rs121908042(C;C) rs121908042(T;T)
Alt	rs121908042(A;A) rs121908042(C;C) rs121908042(T;T)
Reference	Rs121908042(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215908G>A; NC_000019.9:g.11215908G>C; NC_000019.9:g.11215908G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000211658.3, RCV000003941.3, RCV000237657.2,