rs199570811

Orientation

plus

Stabilized

plus

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

Make rs199570811(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11102734

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs199570811
dbSNP (classic)	rs199570811
ClinGen	rs199570811
ebi	rs199570811
HLI	rs199570811
Exac	rs199570811
Gnomad	rs199570811
Varsome	rs199570811
LitVar	rs199570811
Map	rs199570811
PheGenI	rs199570811
Biobank	rs199570811
1000 genomes	rs199570811
hgdp	rs199570811
ensembl	rs199570811
geneview	rs199570811
scholar	rs199570811
google	rs199570811
pharmgkb	rs199570811
gwascentral	rs199570811
openSNP	rs199570811
23andMe	rs199570811
SNPshot	rs199570811
SNPdbe	rs199570811
MSV3d	rs199570811
GWAS Ctlg	rs199570811

Max Magnitude

5

ClinVar
Risk	rs199570811(A;A)
Alt	rs199570811(A;A)
Reference	Rs199570811(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213410G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238280.2,