rs879254965

Orientation

plus

Stabilized

plus

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

Make rs879254965(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116140

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254965
dbSNP (classic)	rs879254965
ClinGen	rs879254965
ebi	rs879254965
HLI	rs879254965
Exac	rs879254965
Gnomad	rs879254965
Varsome	rs879254965
LitVar	rs879254965
Map	rs879254965
PheGenI	rs879254965
Biobank	rs879254965
1000 genomes	rs879254965
hgdp	rs879254965
ensembl	rs879254965
geneview	rs879254965
scholar	rs879254965
google	rs879254965
pharmgkb	rs879254965
gwascentral	rs879254965
openSNP	rs879254965
23andMe	rs879254965
SNPshot	rs879254965
SNPdbe	rs879254965
MSV3d	rs879254965
GWAS Ctlg	rs879254965

Max Magnitude

5

ClinVar
Risk	rs879254965(A;A) rs879254965(C;C) rs879254965(T;T)
Alt	rs879254965(A;A) rs879254965(C;C) rs879254965(T;T)
Reference	Rs879254965(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226816G>A; NC_000019.9:g.11226816G>C; NC_000019.9:g.11226816G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238474.1, RCV000237535.1, RCV000238084.2,