rs370777955

Orientation

plus

Stabilized

plus

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

Make rs370777955(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11113643

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs370777955
dbSNP (classic)	rs370777955
ClinGen	rs370777955
ebi	rs370777955
HLI	rs370777955
Exac	rs370777955
Gnomad	rs370777955
Varsome	rs370777955
LitVar	rs370777955
Map	rs370777955
PheGenI	rs370777955
Biobank	rs370777955
1000 genomes	rs370777955
hgdp	rs370777955
ensembl	rs370777955
geneview	rs370777955
scholar	rs370777955
google	rs370777955
pharmgkb	rs370777955
gwascentral	rs370777955
openSNP	rs370777955
23andMe	rs370777955
SNPshot	rs370777955
SNPdbe	rs370777955
MSV3d	rs370777955
GWAS Ctlg	rs370777955

Max Magnitude

5

aka c.1467C>G or p.Tyr489Ter

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

ClinVar
Risk	rs370777955(G;G)
Alt	rs370777955(G;G)
Reference	Rs370777955(C;C)
Significance	Other
Disease	Hypercholesterolaemia Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Hypercholesterolaemia Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224319C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000148575.1, RCV000238307.1,