rs879254398

Orientation

plus

Stabilized

plus

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

Make rs879254398(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11100231

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254398
dbSNP (classic)	rs879254398
ClinGen	rs879254398
ebi	rs879254398
HLI	rs879254398
Exac	rs879254398
Gnomad	rs879254398
Varsome	rs879254398
LitVar	rs879254398
Map	rs879254398
PheGenI	rs879254398
Biobank	rs879254398
1000 genomes	rs879254398
hgdp	rs879254398
ensembl	rs879254398
geneview	rs879254398
scholar	rs879254398
google	rs879254398
pharmgkb	rs879254398
gwascentral	rs879254398
openSNP	rs879254398
23andMe	rs879254398
SNPshot	rs879254398
SNPdbe	rs879254398
MSV3d	rs879254398
GWAS Ctlg	rs879254398

Max Magnitude

5

ClinVar
Risk	rs879254398(T;T)
Alt	rs879254398(T;T)
Reference	Rs879254398(A;A)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11210907A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238438.1,