rs879255031

Orientation

plus

Stabilized

plus

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

Make rs879255031(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116966

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255031
dbSNP (classic)	rs879255031
ClinGen	rs879255031
ebi	rs879255031
HLI	rs879255031
Exac	rs879255031
Gnomad	rs879255031
Varsome	rs879255031
LitVar	rs879255031
Map	rs879255031
PheGenI	rs879255031
Biobank	rs879255031
1000 genomes	rs879255031
hgdp	rs879255031
ensembl	rs879255031
geneview	rs879255031
scholar	rs879255031
google	rs879255031
pharmgkb	rs879255031
gwascentral	rs879255031
openSNP	rs879255031
23andMe	rs879255031
SNPshot	rs879255031
SNPdbe	rs879255031
MSV3d	rs879255031
GWAS Ctlg	rs879255031

Max Magnitude

5

ClinVar
Risk	rs879255031(T;T)
Alt	rs879255031(T;T)
Reference	Rs879255031(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227642C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238086.1,