rs200238879

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5	Familial Hypercholesterolemia
(T;T)	0	common in clinvar

Make rs200238879(C;C)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11105602

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs200238879
dbSNP (classic)	rs200238879
ClinGen	rs200238879
ebi	rs200238879
HLI	rs200238879
Exac	rs200238879
Gnomad	rs200238879
Varsome	rs200238879
LitVar	rs200238879
Map	rs200238879
PheGenI	rs200238879
Biobank	rs200238879
1000 genomes	rs200238879
hgdp	rs200238879
ensembl	rs200238879
geneview	rs200238879
scholar	rs200238879
google	rs200238879
pharmgkb	rs200238879
gwascentral	rs200238879
openSNP	rs200238879
23andMe	rs200238879
SNPshot	rs200238879
SNPdbe	rs200238879
MSV3d	rs200238879
GWAS Ctlg	rs200238879

Max Magnitude

5

aka c.694+2T>C

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

ClinVar
Risk	rs200238879(C;C)
Alt	rs200238879(C;C)
Reference	Rs200238879(T;T)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216278T>C
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003936.5,