rs869320650

Orientation

plus

Stabilized

plus

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

Make rs869320650(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11110715

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs869320650
dbSNP (classic)	rs869320650
ClinGen	rs869320650
ebi	rs869320650
HLI	rs869320650
Exac	rs869320650
Gnomad	rs869320650
Varsome	rs869320650
LitVar	rs869320650
Map	rs869320650
PheGenI	rs869320650
Biobank	rs869320650
1000 genomes	rs869320650
hgdp	rs869320650
ensembl	rs869320650
geneview	rs869320650
scholar	rs869320650
google	rs869320650
pharmgkb	rs869320650
gwascentral	rs869320650
openSNP	rs869320650
23andMe	rs869320650
SNPshot	rs869320650
SNPdbe	rs869320650
MSV3d	rs869320650
GWAS Ctlg	rs869320650

Max Magnitude

5

ClinVar
Risk	rs869320650(A;A) rs869320650(T;T)
Alt	rs869320650(A;A) rs869320650(T;T)
Reference	Rs869320650(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221391G>A; NC_000019.9:g.11221391G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000210827.1, RCV000238578.1,