rs369943481

Orientation

plus

Stabilized

plus

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

Make rs369943481(C;T)

Make rs369943481(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120454

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs369943481
dbSNP (classic)	rs369943481
ClinGen	rs369943481
ebi	rs369943481
HLI	rs369943481
Exac	rs369943481
Gnomad	rs369943481
Varsome	rs369943481
LitVar	rs369943481
Map	rs369943481
PheGenI	rs369943481
Biobank	rs369943481
1000 genomes	rs369943481
hgdp	rs369943481
ensembl	rs369943481
geneview	rs369943481
scholar	rs369943481
google	rs369943481
pharmgkb	rs369943481
gwascentral	rs369943481
openSNP	rs369943481
23andMe	rs369943481
SNPshot	rs369943481
SNPdbe	rs369943481
MSV3d	rs369943481
GWAS Ctlg	rs369943481

Max Magnitude

5

aka c.2072C>T (p.Ser691Leu)

ClinVar
Risk	rs369943481(A;A) rs369943481(T;T)
Alt	rs369943481(A;A) rs369943481(T;T)
Reference	Rs369943481(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231130C>A; NC_000019.9:g.11231130C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238487.1, RCV000455095.1,