rs13306512

Orientation

plus

Stabilized

plus

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

Make rs13306512(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11107513

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs13306512
dbSNP (classic)	rs13306512
ClinGen	rs13306512
ebi	rs13306512
HLI	rs13306512
Exac	rs13306512
Gnomad	rs13306512
Varsome	rs13306512
LitVar	rs13306512
Map	rs13306512
PheGenI	rs13306512
Biobank	rs13306512
1000 genomes	rs13306512
hgdp	rs13306512
ensembl	rs13306512
geneview	rs13306512
scholar	rs13306512
google	rs13306512
pharmgkb	rs13306512
gwascentral	rs13306512
openSNP	rs13306512
23andMe	rs13306512
SNPshot	rs13306512
SNPdbe	rs13306512
MSV3d	rs13306512
GWAS Ctlg	rs13306512

Max Magnitude

5

ClinVar
Risk	rs13306512(A;A) rs13306512(G;G) rs13306512(T;T)
Alt	rs13306512(A;A) rs13306512(G;G) rs13306512(T;T)
Reference	Rs13306512(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218189C>A; NC_000019.9:g.11218189C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237235.2, RCV000237523.1,