rs879254719

Orientation

plus

Stabilized

plus

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

Make rs879254719(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11107493

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254719
dbSNP (classic)	rs879254719
ClinGen	rs879254719
ebi	rs879254719
HLI	rs879254719
Exac	rs879254719
Gnomad	rs879254719
Varsome	rs879254719
LitVar	rs879254719
Map	rs879254719
PheGenI	rs879254719
Biobank	rs879254719
1000 genomes	rs879254719
hgdp	rs879254719
ensembl	rs879254719
geneview	rs879254719
scholar	rs879254719
google	rs879254719
pharmgkb	rs879254719
gwascentral	rs879254719
openSNP	rs879254719
23andMe	rs879254719
SNPshot	rs879254719
SNPdbe	rs879254719
MSV3d	rs879254719
GWAS Ctlg	rs879254719

Max Magnitude

5

ClinVar
Risk	rs879254719(A;A) rs879254719(C;C)
Alt	rs879254719(A;A) rs879254719(C;C)
Reference	Rs879254719(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218169G>A; NC_000019.9:g.11218169G>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237233.2, RCV000237783.1,