rs879254970

Orientation

plus

Stabilized

plus

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

Make rs879254970(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116151

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254970
dbSNP (classic)	rs879254970
ClinGen	rs879254970
ebi	rs879254970
HLI	rs879254970
Exac	rs879254970
Gnomad	rs879254970
Varsome	rs879254970
LitVar	rs879254970
Map	rs879254970
PheGenI	rs879254970
Biobank	rs879254970
1000 genomes	rs879254970
hgdp	rs879254970
ensembl	rs879254970
geneview	rs879254970
scholar	rs879254970
google	rs879254970
pharmgkb	rs879254970
gwascentral	rs879254970
openSNP	rs879254970
23andMe	rs879254970
SNPshot	rs879254970
SNPdbe	rs879254970
MSV3d	rs879254970
GWAS Ctlg	rs879254970

Max Magnitude

5

ClinVar
Risk	rs879254970(A;A) rs879254970(G;G)
Alt	rs879254970(A;A) rs879254970(G;G)
Reference	Rs879254970(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226827T>A; NC_000019.9:g.11226827T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237808.1, RCV000238356.1,