rs879254600

Orientation

plus

Stabilized

plus

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

Make rs879254600(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105532

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254600
dbSNP (classic)	rs879254600
ClinGen	rs879254600
ebi	rs879254600
HLI	rs879254600
Exac	rs879254600
Gnomad	rs879254600
Varsome	rs879254600
LitVar	rs879254600
Map	rs879254600
PheGenI	rs879254600
Biobank	rs879254600
1000 genomes	rs879254600
hgdp	rs879254600
ensembl	rs879254600
geneview	rs879254600
scholar	rs879254600
google	rs879254600
pharmgkb	rs879254600
gwascentral	rs879254600
openSNP	rs879254600
23andMe	rs879254600
SNPshot	rs879254600
SNPdbe	rs879254600
MSV3d	rs879254600
GWAS Ctlg	rs879254600

Max Magnitude

5

ClinVar
Risk	rs879254600(A;A)
Alt	rs879254600(A;A)
Reference	Rs879254600(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216208G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237316.1,