rs879254428

Orientation

plus

Stabilized

plus

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

Make rs879254428(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11100346

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254428
dbSNP (classic)	rs879254428
ClinGen	rs879254428
ebi	rs879254428
HLI	rs879254428
Exac	rs879254428
Gnomad	rs879254428
Varsome	rs879254428
LitVar	rs879254428
Map	rs879254428
PheGenI	rs879254428
Biobank	rs879254428
1000 genomes	rs879254428
hgdp	rs879254428
ensembl	rs879254428
geneview	rs879254428
scholar	rs879254428
google	rs879254428
pharmgkb	rs879254428
gwascentral	rs879254428
openSNP	rs879254428
23andMe	rs879254428
SNPshot	rs879254428
SNPdbe	rs879254428
MSV3d	rs879254428
GWAS Ctlg	rs879254428

Max Magnitude

5

ClinVar
Risk	rs879254428(A;A) rs879254428(T;T)
Alt	rs879254428(A;A) rs879254428(T;T)
Reference	Rs879254428(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11211022G>A; NC_000019.9:g.11211022G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238298.1, RCV000237358.1,