rs751317621

Orientation

plus

Stabilized

plus

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

Make rs751317621(C;T)

Make rs751317621(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11100281

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs751317621
dbSNP (classic)	rs751317621
ClinGen	rs751317621
ebi	rs751317621
HLI	rs751317621
Exac	rs751317621
Gnomad	rs751317621
Varsome	rs751317621
LitVar	rs751317621
Map	rs751317621
PheGenI	rs751317621
Biobank	rs751317621
1000 genomes	rs751317621
hgdp	rs751317621
ensembl	rs751317621
geneview	rs751317621
scholar	rs751317621
google	rs751317621
pharmgkb	rs751317621
gwascentral	rs751317621
openSNP	rs751317621
23andMe	rs751317621
SNPshot	rs751317621
SNPdbe	rs751317621
MSV3d	rs751317621
GWAS Ctlg	rs751317621

Max Magnitude

5

ClinVar
Risk	rs751317621(A;A) rs751317621(G;G) rs751317621(T;T)
Alt	rs751317621(A;A) rs751317621(G;G) rs751317621(T;T)
Reference	Rs751317621(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11210957C>A; NC_000019.9:g.11210957C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237198.1, RCV000417346.1,