rs150673992

Orientation

plus

Stabilized

plus

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

Make rs150673992(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

11106627

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs150673992
dbSNP (classic)	rs150673992
ClinGen	rs150673992
ebi	rs150673992
HLI	rs150673992
Exac	rs150673992
Gnomad	rs150673992
Varsome	rs150673992
LitVar	rs150673992
Map	rs150673992
PheGenI	rs150673992
Biobank	rs150673992
1000 genomes	rs150673992
hgdp	rs150673992
ensembl	rs150673992
geneview	rs150673992
scholar	rs150673992
google	rs150673992
pharmgkb	rs150673992
gwascentral	rs150673992
openSNP	rs150673992
23andMe	rs150673992
SNPshot	rs150673992
SNPdbe	rs150673992
MSV3d	rs150673992
GWAS Ctlg	rs150673992

Max Magnitude

5

ClinVar
Risk	rs150673992(T;T)
Alt	rs150673992(T;T)
Reference	Rs150673992(C;C)
Significance	Other
Disease	Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217303C>T
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000148562.1, RCV000162019.1, RCV000172958.4,