rs879255055

Orientation

plus

Stabilized

plus

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

Make rs879255055(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11120104

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255055
dbSNP (classic)	rs879255055
ClinGen	rs879255055
ebi	rs879255055
HLI	rs879255055
Exac	rs879255055
Gnomad	rs879255055
Varsome	rs879255055
LitVar	rs879255055
Map	rs879255055
PheGenI	rs879255055
Biobank	rs879255055
1000 genomes	rs879255055
hgdp	rs879255055
ensembl	rs879255055
geneview	rs879255055
scholar	rs879255055
google	rs879255055
pharmgkb	rs879255055
gwascentral	rs879255055
openSNP	rs879255055
23andMe	rs879255055
SNPshot	rs879255055
SNPdbe	rs879255055
MSV3d	rs879255055
GWAS Ctlg	rs879255055

Max Magnitude

5

ClinVar
Risk	rs879255055(C;C)
Alt	rs879255055(C;C)
Reference	Rs879255055(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230780T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237185.1,