rs879254729

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 rs879254729(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11107515

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254729
dbSNP (classic)	rs879254729
ClinGen	rs879254729
ebi	rs879254729
HLI	rs879254729
Exac	rs879254729
Gnomad	rs879254729
Varsome	rs879254729
LitVar	rs879254729
Map	rs879254729
PheGenI	rs879254729
Biobank	rs879254729
1000 genomes	rs879254729
hgdp	rs879254729
ensembl	rs879254729
geneview	rs879254729
scholar	rs879254729
google	rs879254729
pharmgkb	rs879254729
gwascentral	rs879254729
openSNP	rs879254729
23andMe	rs879254729
SNPshot	rs879254729
SNPdbe	rs879254729
MSV3d	rs879254729
GWAS Ctlg	rs879254729

Max Magnitude

5

ClinVar
Risk	rs879254729(A;A) rs879254729(C;C)
Alt	rs879254729(A;A) rs879254729(C;C)
Reference	Rs879254729(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218191G>A; NC_000019.9:g.11218191G>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237170.1, RCV000237745.2,