rs878854027

Orientation

plus

Stabilized

plus

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

Make rs878854027(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11116857

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs878854027
dbSNP (classic)	rs878854027
ClinGen	rs878854027
ebi	rs878854027
HLI	rs878854027
Exac	rs878854027
Gnomad	rs878854027
Varsome	rs878854027
LitVar	rs878854027
Map	rs878854027
PheGenI	rs878854027
Biobank	rs878854027
1000 genomes	rs878854027
hgdp	rs878854027
ensembl	rs878854027
geneview	rs878854027
scholar	rs878854027
google	rs878854027
pharmgkb	rs878854027
gwascentral	rs878854027
openSNP	rs878854027
23andMe	rs878854027
SNPshot	rs878854027
SNPdbe	rs878854027
MSV3d	rs878854027
GWAS Ctlg	rs878854027

Max Magnitude

5

ClinVar
Risk	rs878854027(C;C) rs878854027(T;T)
Alt	rs878854027(C;C) rs878854027(T;T)
Reference	Rs878854027(A;A)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227533A>C; NC_000019.9:g.11227533A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238389.1, RCV000231584.3,