rs112954220

Orientation

plus

Stabilized

plus

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

Make rs112954220(C;T)

Make rs112954220(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120470

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs112954220
dbSNP (classic)	rs112954220
ClinGen	rs112954220
ebi	rs112954220
HLI	rs112954220
Exac	rs112954220
Gnomad	rs112954220
Varsome	rs112954220
LitVar	rs112954220
Map	rs112954220
PheGenI	rs112954220
Biobank	rs112954220
1000 genomes	rs112954220
hgdp	rs112954220
ensembl	rs112954220
geneview	rs112954220
scholar	rs112954220
google	rs112954220
pharmgkb	rs112954220
gwascentral	rs112954220
openSNP	rs112954220
23andMe	rs112954220
SNPshot	rs112954220
SNPdbe	rs112954220
MSV3d	rs112954220
GWAS Ctlg	rs112954220

Max Magnitude

5

ClinVar
Risk	rs112954220(A;A) rs112954220(G;G) rs112954220(T;T)
Alt	rs112954220(A;A) rs112954220(G;G) rs112954220(T;T)
Reference	Rs112954220(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231146C>A; NC_000019.9:g.11231146C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238181.1, RCV000237261.1,