rs145787161

Orientation

plus

Stabilized

plus

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

Make rs145787161(A;A)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11120523

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs145787161
dbSNP (classic)	rs145787161
ClinGen	rs145787161
ebi	rs145787161
HLI	rs145787161
Exac	rs145787161
Gnomad	rs145787161
Varsome	rs145787161
LitVar	rs145787161
Map	rs145787161
PheGenI	rs145787161
Biobank	rs145787161
1000 genomes	rs145787161
hgdp	rs145787161
ensembl	rs145787161
geneview	rs145787161
scholar	rs145787161
google	rs145787161
pharmgkb	rs145787161
gwascentral	rs145787161
openSNP	rs145787161
23andMe	rs145787161
SNPshot	rs145787161
SNPdbe	rs145787161
MSV3d	rs145787161
GWAS Ctlg	rs145787161

Max Magnitude

5

aka c.2140+1G>A

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

ClinVar
Risk	rs145787161(A;A) rs145787161(C;C) rs145787161(T;T)
Alt	rs145787161(A;A) rs145787161(C;C) rs145787161(T;T)
Reference	Rs145787161(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231199G>A; NC_000019.9:g.11231199G>C; NC_000019.9:g.11231199G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003942.6, RCV000238288.1, RCV000237339.1,