rs557344672

Orientation

plus

Stabilized

plus

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

Make rs557344672(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105448

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs557344672
dbSNP (classic)	rs557344672
ClinGen	rs557344672
ebi	rs557344672
HLI	rs557344672
Exac	rs557344672
Gnomad	rs557344672
Varsome	rs557344672
LitVar	rs557344672
Map	rs557344672
PheGenI	rs557344672
Biobank	rs557344672
1000 genomes	rs557344672
hgdp	rs557344672
ensembl	rs557344672
geneview	rs557344672
scholar	rs557344672
google	rs557344672
pharmgkb	rs557344672
gwascentral	rs557344672
openSNP	rs557344672
23andMe	rs557344672
SNPshot	rs557344672
SNPdbe	rs557344672
MSV3d	rs557344672
GWAS Ctlg	rs557344672

Max Magnitude

5

ClinVar
Risk	rs557344672(G;G) rs557344672(T;T)
Alt	rs557344672(G;G) rs557344672(T;T)
Reference	Rs557344672(C;C)
Significance	Other
Disease	not provided Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	not provided Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216124C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000161959.1, RCV000237262.2,