rs764042910

Orientation

plus

Stabilized

plus

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

Make rs764042910(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105549

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs764042910
dbSNP (classic)	rs764042910
ClinGen	rs764042910
ebi	rs764042910
HLI	rs764042910
Exac	rs764042910
Gnomad	rs764042910
Varsome	rs764042910
LitVar	rs764042910
Map	rs764042910
PheGenI	rs764042910
Biobank	rs764042910
1000 genomes	rs764042910
hgdp	rs764042910
ensembl	rs764042910
geneview	rs764042910
scholar	rs764042910
google	rs764042910
pharmgkb	rs764042910
gwascentral	rs764042910
openSNP	rs764042910
23andMe	rs764042910
SNPshot	rs764042910
SNPdbe	rs764042910
MSV3d	rs764042910
GWAS Ctlg	rs764042910

Max Magnitude

5

ClinVar
Risk	rs764042910(A;A) rs764042910(T;T)
Alt	rs764042910(A;A) rs764042910(T;T)
Reference	Rs764042910(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216225C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238132.1,