rs879254749

Orientation

plus

Stabilized

plus

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

Make rs879254749(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11110696

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254749
dbSNP (classic)	rs879254749
ClinGen	rs879254749
ebi	rs879254749
HLI	rs879254749
Exac	rs879254749
Gnomad	rs879254749
Varsome	rs879254749
LitVar	rs879254749
Map	rs879254749
PheGenI	rs879254749
Biobank	rs879254749
1000 genomes	rs879254749
hgdp	rs879254749
ensembl	rs879254749
geneview	rs879254749
scholar	rs879254749
google	rs879254749
pharmgkb	rs879254749
gwascentral	rs879254749
openSNP	rs879254749
23andMe	rs879254749
SNPshot	rs879254749
SNPdbe	rs879254749
MSV3d	rs879254749
GWAS Ctlg	rs879254749

Max Magnitude

5

ClinVar
Risk	rs879254749(C;C) rs879254749(G;G)
Alt	rs879254749(C;C) rs879254749(G;G)
Reference	Rs879254749(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221372T>C; NC_000019.9:g.11221372T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000417313.1, RCV000237877.1,