rs137929307

Orientation

plus

Stabilized

plus

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

Make rs137929307(A;A)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11116928

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs137929307
dbSNP (classic)	rs137929307
ClinGen	rs137929307
ebi	rs137929307
HLI	rs137929307
Exac	rs137929307
Gnomad	rs137929307
Varsome	rs137929307
LitVar	rs137929307
Map	rs137929307
PheGenI	rs137929307
Biobank	rs137929307
1000 genomes	rs137929307
hgdp	rs137929307
ensembl	rs137929307
geneview	rs137929307
scholar	rs137929307
google	rs137929307
pharmgkb	rs137929307
gwascentral	rs137929307
openSNP	rs137929307
23andMe	rs137929307
SNPshot	rs137929307
SNPdbe	rs137929307
MSV3d	rs137929307
GWAS Ctlg	rs137929307

Max Magnitude

5

aka .1775G>A, p.Gly592Glu or G592E

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

ClinVar
Risk	rs137929307(A;A)
Alt	rs137929307(A;A)
Reference	Rs137929307(G;G)
Significance	Other
Disease	Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227604G>A
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000148576.1, RCV000162001.1, RCV000172964.8,