rs774730452

Orientation

plus

Stabilized

plus

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

Make rs774730452(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120432

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs774730452
dbSNP (classic)	rs774730452
ClinGen	rs774730452
ebi	rs774730452
HLI	rs774730452
Exac	rs774730452
Gnomad	rs774730452
Varsome	rs774730452
LitVar	rs774730452
Map	rs774730452
PheGenI	rs774730452
Biobank	rs774730452
1000 genomes	rs774730452
hgdp	rs774730452
ensembl	rs774730452
geneview	rs774730452
scholar	rs774730452
google	rs774730452
pharmgkb	rs774730452
gwascentral	rs774730452
openSNP	rs774730452
23andMe	rs774730452
SNPshot	rs774730452
SNPdbe	rs774730452
MSV3d	rs774730452
GWAS Ctlg	rs774730452

Max Magnitude

5

ClinVar
Risk	rs774730452(A;A)
Alt	rs774730452(A;A)
Reference	Rs774730452(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231108G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237554.1,