rs763998635

Orientation

plus

Stabilized

plus

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

Make rs763998635(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105379

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs763998635
dbSNP (classic)	rs763998635
ClinGen	rs763998635
ebi	rs763998635
HLI	rs763998635
Exac	rs763998635
Gnomad	rs763998635
Varsome	rs763998635
LitVar	rs763998635
Map	rs763998635
PheGenI	rs763998635
Biobank	rs763998635
1000 genomes	rs763998635
hgdp	rs763998635
ensembl	rs763998635
geneview	rs763998635
scholar	rs763998635
google	rs763998635
pharmgkb	rs763998635
gwascentral	rs763998635
openSNP	rs763998635
23andMe	rs763998635
SNPshot	rs763998635
SNPdbe	rs763998635
MSV3d	rs763998635
GWAS Ctlg	rs763998635

Max Magnitude

5

ClinVar
Risk	rs763998635(G;G) rs763998635(T;T)
Alt	rs763998635(G;G) rs763998635(T;T)
Reference	Rs763998635(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216055C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237942.2,