rs879254753

Orientation

plus

Stabilized

plus

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

Make rs879254753(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11110723

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254753
dbSNP (classic)	rs879254753
ClinGen	rs879254753
ebi	rs879254753
HLI	rs879254753
Exac	rs879254753
Gnomad	rs879254753
Varsome	rs879254753
LitVar	rs879254753
Map	rs879254753
PheGenI	rs879254753
Biobank	rs879254753
1000 genomes	rs879254753
hgdp	rs879254753
ensembl	rs879254753
geneview	rs879254753
scholar	rs879254753
google	rs879254753
pharmgkb	rs879254753
gwascentral	rs879254753
openSNP	rs879254753
23andMe	rs879254753
SNPshot	rs879254753
SNPdbe	rs879254753
MSV3d	rs879254753
GWAS Ctlg	rs879254753

Max Magnitude

5

ClinVar
Risk	rs879254753(A;A) rs879254753(C;C) rs879254753(G;G)
Alt	rs879254753(A;A) rs879254753(C;C) rs879254753(G;G)
Reference	Rs879254753(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221399T>A; NC_000019.9:g.11221399T>C; NC_000019.9:g.11221399T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238172.1, RCV000237151.1, RCV000237730.1,