rs372845091

Orientation

plus

Stabilized

plus

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

Make rs372845091(C;T)

Make rs372845091(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11102764

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs372845091
dbSNP (classic)	rs372845091
ClinGen	rs372845091
ebi	rs372845091
HLI	rs372845091
Exac	rs372845091
Gnomad	rs372845091
Varsome	rs372845091
LitVar	rs372845091
Map	rs372845091
PheGenI	rs372845091
Biobank	rs372845091
1000 genomes	rs372845091
hgdp	rs372845091
ensembl	rs372845091
geneview	rs372845091
scholar	rs372845091
google	rs372845091
pharmgkb	rs372845091
gwascentral	rs372845091
openSNP	rs372845091
23andMe	rs372845091
SNPshot	rs372845091
SNPdbe	rs372845091
MSV3d	rs372845091
GWAS Ctlg	rs372845091

Max Magnitude

5

ClinVar
Risk	rs372845091(G;G) rs372845091(T;T)
Alt	rs372845091(G;G) rs372845091(T;T)
Reference	Rs372845091(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213440C>G; NC_000019.9:g.11213440C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237231.1, RCV000237758.1,