rs879254769

Orientation

plus

Stabilized

plus

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

Make rs879254769(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11110765

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254769
dbSNP (classic)	rs879254769
ClinGen	rs879254769
ebi	rs879254769
HLI	rs879254769
Exac	rs879254769
Gnomad	rs879254769
Varsome	rs879254769
LitVar	rs879254769
Map	rs879254769
PheGenI	rs879254769
Biobank	rs879254769
1000 genomes	rs879254769
hgdp	rs879254769
ensembl	rs879254769
geneview	rs879254769
scholar	rs879254769
google	rs879254769
pharmgkb	rs879254769
gwascentral	rs879254769
openSNP	rs879254769
23andMe	rs879254769
SNPshot	rs879254769
SNPdbe	rs879254769
MSV3d	rs879254769
GWAS Ctlg	rs879254769

Max Magnitude

5

ClinVar
Risk	rs879254769(A;A) rs879254769(C;C)
Alt	rs879254769(A;A) rs879254769(C;C)
Reference	Rs879254769(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221441T>A; NC_000019.9:g.11221441T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237443.2, RCV000238007.1,