rs121908036

Orientation

plus

Stabilized

plus

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

Make rs121908036(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11113388

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs121908036
dbSNP (classic)	rs121908036
ClinGen	rs121908036
ebi	rs121908036
HLI	rs121908036
Exac	rs121908036
Gnomad	rs121908036
Varsome	rs121908036
LitVar	rs121908036
Map	rs121908036
PheGenI	rs121908036
Biobank	rs121908036
1000 genomes	rs121908036
hgdp	rs121908036
ensembl	rs121908036
geneview	rs121908036
scholar	rs121908036
google	rs121908036
pharmgkb	rs121908036
gwascentral	rs121908036
openSNP	rs121908036
23andMe	rs121908036
SNPshot	rs121908036
SNPdbe	rs121908036
MSV3d	rs121908036
GWAS Ctlg	rs121908036

Max Magnitude

5

aka c.1297G>C, p.Asp433His or D433H; also known as FH Osaka 3

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

OMIM	606945
Desc
Variant	0050
Related	also

ClinVar
Risk	rs121908036(C;C) rs121908036(T;T)
Alt	rs121908036(C;C) rs121908036(T;T)
Reference	Rs121908036(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224064G>C; NC_000019.9:g.11224064G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003930.6, RCV000237834.1,