rs368657165

Orientation

plus

Stabilized

plus

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

Make rs368657165(A;A)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11107436

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs368657165
dbSNP (classic)	rs368657165
ClinGen	rs368657165
ebi	rs368657165
HLI	rs368657165
Exac	rs368657165
Gnomad	rs368657165
Varsome	rs368657165
LitVar	rs368657165
Map	rs368657165
PheGenI	rs368657165
Biobank	rs368657165
1000 genomes	rs368657165
hgdp	rs368657165
ensembl	rs368657165
geneview	rs368657165
scholar	rs368657165
google	rs368657165
pharmgkb	rs368657165
gwascentral	rs368657165
openSNP	rs368657165
23andMe	rs368657165
SNPshot	rs368657165
SNPdbe	rs368657165
MSV3d	rs368657165
GWAS Ctlg	rs368657165

Max Magnitude

5

ClinVar
Risk	rs368657165(A;A) rs368657165(T;T)
Alt	rs368657165(A;A) rs368657165(T;T)
Reference	Rs368657165(G;G)
Significance	Other
Disease	Hypercholesterolaemia Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Hypercholesterolaemia Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218112G>A; NC_000019.9:g.11218112G>T
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000148573.1, RCV000234348.4, RCV000237673.1,