rs121908032

Orientation

plus

Stabilized

plus

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

Make rs121908032(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11129562

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908032
dbSNP (classic)	rs121908032
ClinGen	rs121908032
ebi	rs121908032
HLI	rs121908032
Exac	rs121908032
Gnomad	rs121908032
Varsome	rs121908032
LitVar	rs121908032
Map	rs121908032
PheGenI	rs121908032
Biobank	rs121908032
1000 genomes	rs121908032
hgdp	rs121908032
ensembl	rs121908032
geneview	rs121908032
scholar	rs121908032
google	rs121908032
pharmgkb	rs121908032
gwascentral	rs121908032
openSNP	rs121908032
23andMe	rs121908032
SNPshot	rs121908032
SNPdbe	rs121908032
MSV3d	rs121908032
GWAS Ctlg	rs121908032

Max Magnitude

5

aka c.2439G>A, p.Trp813Ter or W813X; also known as FH Bahrain

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

OMIM	606945
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121908032(A;A)
Alt	rs121908032(A;A)
Reference	Rs121908032(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240238G>A
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003892.5,