rs879254601

Orientation

plus

Stabilized

plus

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

Make rs879254601(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105535

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254601
dbSNP (classic)	rs879254601
ClinGen	rs879254601
ebi	rs879254601
HLI	rs879254601
Exac	rs879254601
Gnomad	rs879254601
Varsome	rs879254601
LitVar	rs879254601
Map	rs879254601
PheGenI	rs879254601
Biobank	rs879254601
1000 genomes	rs879254601
hgdp	rs879254601
ensembl	rs879254601
geneview	rs879254601
scholar	rs879254601
google	rs879254601
pharmgkb	rs879254601
gwascentral	rs879254601
openSNP	rs879254601
23andMe	rs879254601
SNPshot	rs879254601
SNPdbe	rs879254601
MSV3d	rs879254601
GWAS Ctlg	rs879254601

Max Magnitude

5

ClinVar
Risk	rs879254601(A;A) rs879254601(C;C)
Alt	rs879254601(A;A) rs879254601(C;C)
Reference	Rs879254601(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216211T>A; NC_000019.9:g.11216211T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237684.1, RCV000417340.1,