rs875989943

Orientation

plus

Stabilized

plus

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

Make rs875989943(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11128040

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs875989943
dbSNP (classic)	rs875989943
ClinGen	rs875989943
ebi	rs875989943
HLI	rs875989943
Exac	rs875989943
Gnomad	rs875989943
Varsome	rs875989943
LitVar	rs875989943
Map	rs875989943
PheGenI	rs875989943
Biobank	rs875989943
1000 genomes	rs875989943
hgdp	rs875989943
ensembl	rs875989943
geneview	rs875989943
scholar	rs875989943
google	rs875989943
pharmgkb	rs875989943
gwascentral	rs875989943
openSNP	rs875989943
23andMe	rs875989943
SNPshot	rs875989943
SNPdbe	rs875989943
MSV3d	rs875989943
GWAS Ctlg	rs875989943

Max Magnitude

5

ClinVar
Risk	rs875989943(T;T)
Alt	rs875989943(T;T)
Reference	Rs875989943(A;A)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11238716A>T
CLNSRC
CLNACC	RCV000211559.1,