rs794728584

Orientation

plus

Stabilized

plus

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

Make rs794728584(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120162

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs794728584
dbSNP (classic)	rs794728584
ClinGen	rs794728584
ebi	rs794728584
HLI	rs794728584
Exac	rs794728584
Gnomad	rs794728584
Varsome	rs794728584
LitVar	rs794728584
Map	rs794728584
PheGenI	rs794728584
Biobank	rs794728584
1000 genomes	rs794728584
hgdp	rs794728584
ensembl	rs794728584
geneview	rs794728584
scholar	rs794728584
google	rs794728584
pharmgkb	rs794728584
gwascentral	rs794728584
openSNP	rs794728584
23andMe	rs794728584
SNPshot	rs794728584
SNPdbe	rs794728584
MSV3d	rs794728584
GWAS Ctlg	rs794728584

Max Magnitude

5

aka c.1916T>A, p.Val639Asp or V639D

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk	rs794728584(A;A) rs794728584(G;G)
Alt	rs794728584(A;A) rs794728584(G;G)
Reference	Rs794728584(T;T)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230838T>A; NC_000019.9:g.11230838T>G
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000238444.1, RCV000237504.1,