rs879254993

Orientation

plus

Stabilized

plus

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

Make rs879254993(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116212

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254993
dbSNP (classic)	rs879254993
ClinGen	rs879254993
ebi	rs879254993
HLI	rs879254993
Exac	rs879254993
Gnomad	rs879254993
Varsome	rs879254993
LitVar	rs879254993
Map	rs879254993
PheGenI	rs879254993
Biobank	rs879254993
1000 genomes	rs879254993
hgdp	rs879254993
ensembl	rs879254993
geneview	rs879254993
scholar	rs879254993
google	rs879254993
pharmgkb	rs879254993
gwascentral	rs879254993
openSNP	rs879254993
23andMe	rs879254993
SNPshot	rs879254993
SNPdbe	rs879254993
MSV3d	rs879254993
GWAS Ctlg	rs879254993

Max Magnitude

5

ClinVar
Risk	rs879254993(A;A) rs879254993(T;T)
Alt	rs879254993(A;A) rs879254993(T;T)
Reference	Rs879254993(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226888G>A; NC_000019.9:g.11226888G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000417328.1, RCV000237589.1,