rs121908033

Orientation

plus

Stabilized

plus

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

Make rs121908033(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105429

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908033
dbSNP (classic)	rs121908033
ClinGen	rs121908033
ebi	rs121908033
HLI	rs121908033
Exac	rs121908033
Gnomad	rs121908033
Varsome	rs121908033
LitVar	rs121908033
Map	rs121908033
PheGenI	rs121908033
Biobank	rs121908033
1000 genomes	rs121908033
hgdp	rs121908033
ensembl	rs121908033
geneview	rs121908033
scholar	rs121908033
google	rs121908033
pharmgkb	rs121908033
gwascentral	rs121908033
openSNP	rs121908033
23andMe	rs121908033
SNPshot	rs121908033
SNPdbe	rs121908033
MSV3d	rs121908033
GWAS Ctlg	rs121908033

Max Magnitude

5

aka c.523G>A, p.Asp175Asn or D175N; also known as FH Afrikaner 3

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

OMIM	606945
Desc
Variant	0044
Related	also

ClinVar
Risk	rs121908033(A;A) rs121908033(T;T)
Alt	rs121908033(A;A) rs121908033(T;T)
Reference	Rs121908033(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216105G>A; NC_000019.9:g.11216105G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003924.6, RCV000237816.1,