rs879254652

Orientation

plus

Stabilized

plus

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

Make rs879254652(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11106564

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254652
dbSNP (classic)	rs879254652
ClinGen	rs879254652
ebi	rs879254652
HLI	rs879254652
Exac	rs879254652
Gnomad	rs879254652
Varsome	rs879254652
LitVar	rs879254652
Map	rs879254652
PheGenI	rs879254652
Biobank	rs879254652
1000 genomes	rs879254652
hgdp	rs879254652
ensembl	rs879254652
geneview	rs879254652
scholar	rs879254652
google	rs879254652
pharmgkb	rs879254652
gwascentral	rs879254652
openSNP	rs879254652
23andMe	rs879254652
SNPshot	rs879254652
SNPdbe	rs879254652
MSV3d	rs879254652
GWAS Ctlg	rs879254652

Max Magnitude

5

ClinVar
Risk	rs879254652(A;A) rs879254652(T;T)
Alt	rs879254652(A;A) rs879254652(T;T)
Reference	Rs879254652(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217240G>A; NC_000019.9:g.11217240G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000408837.1, RCV000237219.1,