rs374045590

Orientation

plus

Stabilized

plus

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

Make rs374045590(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11129598

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs374045590
dbSNP (classic)	rs374045590
ClinGen	rs374045590
ebi	rs374045590
HLI	rs374045590
Exac	rs374045590
Gnomad	rs374045590
Varsome	rs374045590
LitVar	rs374045590
Map	rs374045590
PheGenI	rs374045590
Biobank	rs374045590
1000 genomes	rs374045590
hgdp	rs374045590
ensembl	rs374045590
geneview	rs374045590
scholar	rs374045590
google	rs374045590
pharmgkb	rs374045590
gwascentral	rs374045590
openSNP	rs374045590
23andMe	rs374045590
SNPshot	rs374045590
SNPdbe	rs374045590
MSV3d	rs374045590
GWAS Ctlg	rs374045590

Max Magnitude

5

ClinVar
Risk	rs374045590(A;A) rs374045590(G;G)
Alt	rs374045590(A;A) rs374045590(G;G)
Reference	Rs374045590(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia Hypercholesterolaemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia Hypercholesterolaemia
Reversed	0
HGVS	NC_000019.9:g.11240274C>A; NC_000019.9:g.11240274C>G
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000238314.1, RCV000148570.1, RCV000237920.2,