rs752596535

Orientation

plus

Stabilized

plus

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

Make rs752596535(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105407

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs752596535
dbSNP (classic)	rs752596535
ClinGen	rs752596535
ebi	rs752596535
HLI	rs752596535
Exac	rs752596535
Gnomad	rs752596535
Varsome	rs752596535
LitVar	rs752596535
Map	rs752596535
PheGenI	rs752596535
Biobank	rs752596535
1000 genomes	rs752596535
hgdp	rs752596535
ensembl	rs752596535
geneview	rs752596535
scholar	rs752596535
google	rs752596535
pharmgkb	rs752596535
gwascentral	rs752596535
openSNP	rs752596535
23andMe	rs752596535
SNPshot	rs752596535
SNPdbe	rs752596535
MSV3d	rs752596535
GWAS Ctlg	rs752596535

Max Magnitude

5

ClinVar
Risk	rs752596535(A;A) rs752596535(G;G) rs752596535(T;T)
Alt	rs752596535(A;A) rs752596535(G;G) rs752596535(T;T)
Reference	Rs752596535(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216083C>A; NC_000019.9:g.11216083C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000211619.4, RCV000237146.1,