rs879254498

Orientation

plus

Stabilized

plus

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

Make rs879254498(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105276

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254498
dbSNP (classic)	rs879254498
ClinGen	rs879254498
ebi	rs879254498
HLI	rs879254498
Exac	rs879254498
Gnomad	rs879254498
Varsome	rs879254498
LitVar	rs879254498
Map	rs879254498
PheGenI	rs879254498
Biobank	rs879254498
1000 genomes	rs879254498
hgdp	rs879254498
ensembl	rs879254498
geneview	rs879254498
scholar	rs879254498
google	rs879254498
pharmgkb	rs879254498
gwascentral	rs879254498
openSNP	rs879254498
23andMe	rs879254498
SNPshot	rs879254498
SNPdbe	rs879254498
MSV3d	rs879254498
GWAS Ctlg	rs879254498

Max Magnitude

5

ClinVar
Risk	rs879254498(G;G) rs879254498(T;T)
Alt	rs879254498(G;G) rs879254498(T;T)
Reference	Rs879254498(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia not specified
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not specified
Reversed	0
HGVS	NC_000019.9:g.11215952C>G; NC_000019.9:g.11215952C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237839.1, RCV000238243.1, RCV000455754.1,