rs121908043

plus

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

Make rs121908043(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11113307

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs121908043
dbSNP (classic)	rs121908043
ClinGen	rs121908043
ebi	rs121908043
HLI	rs121908043
Exac	rs121908043
Gnomad	rs121908043
Varsome	rs121908043
LitVar	rs121908043
Map	rs121908043
PheGenI	rs121908043
Biobank	rs121908043
1000 genomes	rs121908043
hgdp	rs121908043
ensembl	rs121908043
geneview	rs121908043
scholar	rs121908043
google	rs121908043
pharmgkb	rs121908043
gwascentral	rs121908043
openSNP	rs121908043
23andMe	rs121908043
SNPshot	rs121908043
SNPdbe	rs121908043
MSV3d	rs121908043
GWAS Ctlg	rs121908043

Max Magnitude

5

aka c.1216C>A or p.Arg406=; also known as c.1216C>T or p.Arg406Trp

The A variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease, based on the introduction of a novel splice site.

The T 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	0065
Related	also

ClinVar
Risk	rs121908043(A;A) rs121908043(T;T)
Alt	rs121908043(A;A) rs121908043(T;T)
Reference	Rs121908043(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11223983C>A; NC_000019.9:g.11223983C>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003944.3, RCV000211575.3,