rs879254603

Orientation

plus

Stabilized

plus

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

Make rs879254603(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105538

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254603
dbSNP (classic)	rs879254603
ClinGen	rs879254603
ebi	rs879254603
HLI	rs879254603
Exac	rs879254603
Gnomad	rs879254603
Varsome	rs879254603
LitVar	rs879254603
Map	rs879254603
PheGenI	rs879254603
Biobank	rs879254603
1000 genomes	rs879254603
hgdp	rs879254603
ensembl	rs879254603
geneview	rs879254603
scholar	rs879254603
google	rs879254603
pharmgkb	rs879254603
gwascentral	rs879254603
openSNP	rs879254603
23andMe	rs879254603
SNPshot	rs879254603
SNPdbe	rs879254603
MSV3d	rs879254603
GWAS Ctlg	rs879254603

Max Magnitude

5

ClinVar
Risk	rs879254603(T;T)
Alt	rs879254603(T;T)
Reference	Rs879254603(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216214A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238558.1,