rs879254505

Orientation

plus

Stabilized

plus

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

Make rs879254505(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105288

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254505
dbSNP (classic)	rs879254505
ClinGen	rs879254505
ebi	rs879254505
HLI	rs879254505
Exac	rs879254505
Gnomad	rs879254505
Varsome	rs879254505
LitVar	rs879254505
Map	rs879254505
PheGenI	rs879254505
Biobank	rs879254505
1000 genomes	rs879254505
hgdp	rs879254505
ensembl	rs879254505
geneview	rs879254505
scholar	rs879254505
google	rs879254505
pharmgkb	rs879254505
gwascentral	rs879254505
openSNP	rs879254505
23andMe	rs879254505
SNPshot	rs879254505
SNPdbe	rs879254505
MSV3d	rs879254505
GWAS Ctlg	rs879254505

Max Magnitude

5

ClinVar
Risk	rs879254505(C;C)
Alt	rs879254505(C;C)
Reference	Rs879254505(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215964T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238535.1,