rs879254520

Orientation

plus

Stabilized

plus

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

Make rs879254520(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105326

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254520
dbSNP (classic)	rs879254520
ClinGen	rs879254520
ebi	rs879254520
HLI	rs879254520
Exac	rs879254520
Gnomad	rs879254520
Varsome	rs879254520
LitVar	rs879254520
Map	rs879254520
PheGenI	rs879254520
Biobank	rs879254520
1000 genomes	rs879254520
hgdp	rs879254520
ensembl	rs879254520
geneview	rs879254520
scholar	rs879254520
google	rs879254520
pharmgkb	rs879254520
gwascentral	rs879254520
openSNP	rs879254520
23andMe	rs879254520
SNPshot	rs879254520
SNPdbe	rs879254520
MSV3d	rs879254520
GWAS Ctlg	rs879254520

Max Magnitude

5

ClinVar
Risk	rs879254520(C;C) rs879254520(T;T)
Alt	rs879254520(C;C) rs879254520(T;T)
Reference	Rs879254520(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216002G>C; NC_000019.9:g.11216002G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237168.2, RCV000237560.1,