rs756613387

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(C;T)	5	Familial Hypercholesterolemia

Make rs756613387(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105572

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs756613387
dbSNP (classic)	rs756613387
ClinGen	rs756613387
ebi	rs756613387
HLI	rs756613387
Exac	rs756613387
Gnomad	rs756613387
Varsome	rs756613387
LitVar	rs756613387
Map	rs756613387
PheGenI	rs756613387
Biobank	rs756613387
1000 genomes	rs756613387
hgdp	rs756613387
ensembl	rs756613387
geneview	rs756613387
scholar	rs756613387
google	rs756613387
pharmgkb	rs756613387
gwascentral	rs756613387
openSNP	rs756613387
23andMe	rs756613387
SNPshot	rs756613387
SNPdbe	rs756613387
MSV3d	rs756613387
GWAS Ctlg	rs756613387

Max Magnitude

5

ClinVar
Risk	rs756613387(A;A) rs756613387(G;G)
Alt	rs756613387(A;A) rs756613387(G;G)
Reference	Rs756613387(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216248C>A; NC_000019.9:g.11216248C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238311.1, RCV000237365.2,