rs138315511

Orientation

plus

Stabilized

plus

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

Make rs138315511(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11111538

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs138315511
dbSNP (classic)	rs138315511
ClinGen	rs138315511
ebi	rs138315511
HLI	rs138315511
Exac	rs138315511
Gnomad	rs138315511
Varsome	rs138315511
LitVar	rs138315511
Map	rs138315511
PheGenI	rs138315511
Biobank	rs138315511
1000 genomes	rs138315511
hgdp	rs138315511
ensembl	rs138315511
geneview	rs138315511
scholar	rs138315511
google	rs138315511
pharmgkb	rs138315511
gwascentral	rs138315511
openSNP	rs138315511
23andMe	rs138315511
SNPshot	rs138315511
SNPdbe	rs138315511
MSV3d	rs138315511
GWAS Ctlg	rs138315511

Max Magnitude

5

ClinVar
Risk	rs138315511(C;C) rs138315511(T;T)
Alt	rs138315511(C;C) rs138315511(T;T)
Reference	Rs138315511(A;A)
Significance	Other
Disease	Familial hypercholesterolemia Hypercholesterolaemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia Hypercholesterolaemia
Reversed	0
HGVS	NC_000019.9:g.11222214A>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000030124.3, RCV000148563.1,

[PMID 15823288] The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

[PMID 16542394] Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.