rs879255012

Orientation

plus

Stabilized

plus

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

Make rs879255012(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116907

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255012
dbSNP (classic)	rs879255012
ClinGen	rs879255012
ebi	rs879255012
HLI	rs879255012
Exac	rs879255012
Gnomad	rs879255012
Varsome	rs879255012
LitVar	rs879255012
Map	rs879255012
PheGenI	rs879255012
Biobank	rs879255012
1000 genomes	rs879255012
hgdp	rs879255012
ensembl	rs879255012
geneview	rs879255012
scholar	rs879255012
google	rs879255012
pharmgkb	rs879255012
gwascentral	rs879255012
openSNP	rs879255012
23andMe	rs879255012
SNPshot	rs879255012
SNPdbe	rs879255012
MSV3d	rs879255012
GWAS Ctlg	rs879255012

Max Magnitude

5

ClinVar
Risk	rs879255012(A;A) rs879255012(C;C)
Alt	rs879255012(A;A) rs879255012(C;C)
Reference	Rs879255012(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227583T>A; NC_000019.9:g.11227583T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237752.1, RCV000238270.1,