rs879254401

Orientation

plus

Stabilized

plus

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

Make rs879254401(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11100240

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254401
dbSNP (classic)	rs879254401
ClinGen	rs879254401
ebi	rs879254401
HLI	rs879254401
Exac	rs879254401
Gnomad	rs879254401
Varsome	rs879254401
LitVar	rs879254401
Map	rs879254401
PheGenI	rs879254401
Biobank	rs879254401
1000 genomes	rs879254401
hgdp	rs879254401
ensembl	rs879254401
geneview	rs879254401
scholar	rs879254401
google	rs879254401
pharmgkb	rs879254401
gwascentral	rs879254401
openSNP	rs879254401
23andMe	rs879254401
SNPshot	rs879254401
SNPdbe	rs879254401
MSV3d	rs879254401
GWAS Ctlg	rs879254401

Max Magnitude

5

ClinVar
Risk	rs879254401(T;T)
Alt	rs879254401(T;T)
Reference	Rs879254401(A;A)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11210916A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238347.1,