rs372828849

Orientation

plus

Stabilized

plus

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

Make rs372828849(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11102743

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs372828849
dbSNP (classic)	rs372828849
ClinGen	rs372828849
ebi	rs372828849
HLI	rs372828849
Exac	rs372828849
Gnomad	rs372828849
Varsome	rs372828849
LitVar	rs372828849
Map	rs372828849
PheGenI	rs372828849
Biobank	rs372828849
1000 genomes	rs372828849
hgdp	rs372828849
ensembl	rs372828849
geneview	rs372828849
scholar	rs372828849
google	rs372828849
pharmgkb	rs372828849
gwascentral	rs372828849
openSNP	rs372828849
23andMe	rs372828849
SNPshot	rs372828849
SNPdbe	rs372828849
MSV3d	rs372828849
GWAS Ctlg	rs372828849

Max Magnitude

5

ClinVar
Risk	rs372828849(A;A) rs372828849(C;C)
Alt	rs372828849(A;A) rs372828849(C;C)
Reference	Rs372828849(T;T)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213419T>A; NC_000019.9:g.11213419T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238563.1, RCV000461453.1,