rs875989928

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(G;T)	5	Familial Hypercholesterolemia

Make rs875989928(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11116884

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs875989928
dbSNP (classic)	rs875989928
ClinGen	rs875989928
ebi	rs875989928
HLI	rs875989928
Exac	rs875989928
Gnomad	rs875989928
Varsome	rs875989928
LitVar	rs875989928
Map	rs875989928
PheGenI	rs875989928
Biobank	rs875989928
1000 genomes	rs875989928
hgdp	rs875989928
ensembl	rs875989928
geneview	rs875989928
scholar	rs875989928
google	rs875989928
pharmgkb	rs875989928
gwascentral	rs875989928
openSNP	rs875989928
23andMe	rs875989928
SNPshot	rs875989928
SNPdbe	rs875989928
MSV3d	rs875989928
GWAS Ctlg	rs875989928

Max Magnitude

5

ClinVar
Risk	rs875989928(A;A) rs875989928(C;C) rs875989928(T;T)
Alt	rs875989928(A;A) rs875989928(C;C) rs875989928(T;T)
Reference	Rs875989928(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11227560G>A; NC_000019.9:g.11227560G>C; NC_000019.9:g.11227560G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000211585.2, RCV000467552.1, RCV000237962.1, RCV000254781.2,