rs377437226

Orientation

plus

Stabilized

plus

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

Make rs377437226(C;T)

Make rs377437226(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11129669

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs377437226
dbSNP (classic)	rs377437226
ClinGen	rs377437226
ebi	rs377437226
HLI	rs377437226
Exac	rs377437226
Gnomad	rs377437226
Varsome	rs377437226
LitVar	rs377437226
Map	rs377437226
PheGenI	rs377437226
Biobank	rs377437226
1000 genomes	rs377437226
hgdp	rs377437226
ensembl	rs377437226
geneview	rs377437226
scholar	rs377437226
google	rs377437226
pharmgkb	rs377437226
gwascentral	rs377437226
openSNP	rs377437226
23andMe	rs377437226
SNPshot	rs377437226
SNPdbe	rs377437226
MSV3d	rs377437226
GWAS Ctlg	rs377437226

Max Magnitude

5

ClinVar
Risk	rs377437226(A;A) rs377437226(T;T)
Alt	rs377437226(A;A) rs377437226(T;T)
Reference	Rs377437226(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240345C>A; NC_000019.9:g.11240345C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238059.1, RCV000415715.1,