rs764526789

Orientation

plus

Stabilized

plus

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

Make rs764526789(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11106632

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs764526789
dbSNP (classic)	rs764526789
ClinGen	rs764526789
ebi	rs764526789
HLI	rs764526789
Exac	rs764526789
Gnomad	rs764526789
Varsome	rs764526789
LitVar	rs764526789
Map	rs764526789
PheGenI	rs764526789
Biobank	rs764526789
1000 genomes	rs764526789
hgdp	rs764526789
ensembl	rs764526789
geneview	rs764526789
scholar	rs764526789
google	rs764526789
pharmgkb	rs764526789
gwascentral	rs764526789
openSNP	rs764526789
23andMe	rs764526789
SNPshot	rs764526789
SNPdbe	rs764526789
MSV3d	rs764526789
GWAS Ctlg	rs764526789

Max Magnitude

5

ClinVar
Risk	rs764526789(A;A) rs764526789(T;T)
Alt	rs764526789(A;A) rs764526789(T;T)
Reference	Rs764526789(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217308G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237305.1,