rs751603969

Orientation

plus

Stabilized

plus

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

Make rs751603969(C;C)

Make rs751603969(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11113663

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs751603969
dbSNP (classic)	rs751603969
ClinGen	rs751603969
ebi	rs751603969
HLI	rs751603969
Exac	rs751603969
Gnomad	rs751603969
Varsome	rs751603969
LitVar	rs751603969
Map	rs751603969
PheGenI	rs751603969
Biobank	rs751603969
1000 genomes	rs751603969
hgdp	rs751603969
ensembl	rs751603969
geneview	rs751603969
scholar	rs751603969
google	rs751603969
pharmgkb	rs751603969
gwascentral	rs751603969
openSNP	rs751603969
23andMe	rs751603969
SNPshot	rs751603969
SNPdbe	rs751603969
MSV3d	rs751603969
GWAS Ctlg	rs751603969

Max Magnitude

5

ClinVar
Risk	rs751603969(C;C) rs751603969(T;T)
Alt	rs751603969(C;C) rs751603969(T;T)
Reference	Rs751603969(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224339G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237543.1,