rs879254697

Orientation

plus

Stabilized

plus

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

Make rs879254697(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11107439

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254697
dbSNP (classic)	rs879254697
ClinGen	rs879254697
ebi	rs879254697
HLI	rs879254697
Exac	rs879254697
Gnomad	rs879254697
Varsome	rs879254697
LitVar	rs879254697
Map	rs879254697
PheGenI	rs879254697
Biobank	rs879254697
1000 genomes	rs879254697
hgdp	rs879254697
ensembl	rs879254697
geneview	rs879254697
scholar	rs879254697
google	rs879254697
pharmgkb	rs879254697
gwascentral	rs879254697
openSNP	rs879254697
23andMe	rs879254697
SNPshot	rs879254697
SNPdbe	rs879254697
MSV3d	rs879254697
GWAS Ctlg	rs879254697

Max Magnitude

5

ClinVar
Risk	rs879254697(C;C)
Alt	rs879254697(C;C)
Reference	Rs879254697(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11218115T>C; NC_000019.9:g.11218115T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237446.1, RCV000493555.1,