rs121908039

plus

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

Make rs121908039(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105457

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908039
dbSNP (classic)	rs121908039
ClinGen	rs121908039
ebi	rs121908039
HLI	rs121908039
Exac	rs121908039
Gnomad	rs121908039
Varsome	rs121908039
LitVar	rs121908039
Map	rs121908039
PheGenI	rs121908039
Biobank	rs121908039
1000 genomes	rs121908039
hgdp	rs121908039
ensembl	rs121908039
geneview	rs121908039
scholar	rs121908039
google	rs121908039
pharmgkb	rs121908039
gwascentral	rs121908039
openSNP	rs121908039
23andMe	rs121908039
SNPshot	rs121908039
SNPdbe	rs121908039
MSV3d	rs121908039
GWAS Ctlg	rs121908039

Max Magnitude

5

aka c.551G>A, p.Cys184Tyr or C184Y; also known as FH Glasco and FH Rome-2; note also presence of c.551G>C (p.Cys184Ser or C184S), which is also likely to be pathogenic according to ClinVar

FH Glasco is one of the most common South Asian and non-Finnish European FH mutations in ExAC/Broad data.

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

OMIM	606945
Desc
Variant	0058
Related	also

ClinVar
Risk	rs121908039(A;A)
Alt	rs121908039(A;A)
Reference	Rs121908039(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216133G>A
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003937.8,