rs777321035

Orientation

plus

Stabilized

plus

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

Make rs777321035(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105410

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs777321035
dbSNP (classic)	rs777321035
ClinGen	rs777321035
ebi	rs777321035
HLI	rs777321035
Exac	rs777321035
Gnomad	rs777321035
Varsome	rs777321035
LitVar	rs777321035
Map	rs777321035
PheGenI	rs777321035
Biobank	rs777321035
1000 genomes	rs777321035
hgdp	rs777321035
ensembl	rs777321035
geneview	rs777321035
scholar	rs777321035
google	rs777321035
pharmgkb	rs777321035
gwascentral	rs777321035
openSNP	rs777321035
23andMe	rs777321035
SNPshot	rs777321035
SNPdbe	rs777321035
MSV3d	rs777321035
GWAS Ctlg	rs777321035

Max Magnitude

5

ClinVar
Risk	rs777321035(A;A)
Alt	rs777321035(A;A)
Reference	Rs777321035(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216086C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238338.2,