rs137853966

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	4	dominant mutation leading to Familial Hypercholesterolemia
(-;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105559

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs137853966
dbSNP (classic)	rs137853966
ClinGen	rs137853966
ebi	rs137853966
HLI	rs137853966
Exac	rs137853966
Gnomad	rs137853966
Varsome	rs137853966
LitVar	rs137853966
Map	rs137853966
PheGenI	rs137853966
Biobank	rs137853966
1000 genomes	rs137853966
hgdp	rs137853966
ensembl	rs137853966
geneview	rs137853966
scholar	rs137853966
google	rs137853966
pharmgkb	rs137853966
gwascentral	rs137853966
openSNP	rs137853966
23andMe	rs137853966
SNPshot	rs137853966
SNPdbe	rs137853966
MSV3d	rs137853966
GWAS Ctlg	rs137853966

Max Magnitude

5

The - (deletion) allele of this SNP in the low density lipoprotein receptor LDLR gene is a dominant mutation that causes familial hypercholesterolemia. [PMID 7649546]

ClinVar
Risk	Rs137853966(-;-)
Alt	Rs137853966(-;-)
Reference	Rs137853966(G;G)
Significance	Other
Disease	not provided Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	not provided Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216235delG
CLNSRC	LDLR @ LOVD
CLNACC	RCV000058918.1, RCV000237824.1,

[PMID 19602640] The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.