rs137853965

plus

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

Reference

GRCh38 38.1/141

Chromosome

19

Position

11120443

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs137853965
dbSNP (classic)	rs137853965
ClinGen	rs137853965
ebi	rs137853965
HLI	rs137853965
Exac	rs137853965
Gnomad	rs137853965
Varsome	rs137853965
LitVar	rs137853965
Map	rs137853965
PheGenI	rs137853965
Biobank	rs137853965
1000 genomes	rs137853965
hgdp	rs137853965
ensembl	rs137853965
geneview	rs137853965
scholar	rs137853965
google	rs137853965
pharmgkb	rs137853965
gwascentral	rs137853965
openSNP	rs137853965
23andMe	rs137853965
SNPshot	rs137853965
SNPdbe	rs137853965
MSV3d	rs137853965
GWAS Ctlg	rs137853965

Max Magnitude

5

The C allele of this SNP in the low density lipoprotein receptor LDLR gene, which is a dominant insertion mutation also known as p.N688QfsX29, causes familial hypercholesterolemia. [PMID 16159606]

ClinVar
Risk	Rs137853965(C;C)
Alt	Rs137853965(C;C)
Reference	Rs137853965(-;-)
Significance	Pathogenic
Disease	not provided Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	not provided Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231119dupC
CLNSRC	LDLR @ LOVD
CLNACC	RCV000058921.1, RCV000211582.2,

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