rs749780672

Orientation

plus

Stabilized

plus

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

Make rs749780672(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11113426

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs749780672
dbSNP (classic)	rs749780672
ClinGen	rs749780672
ebi	rs749780672
HLI	rs749780672
Exac	rs749780672
Gnomad	rs749780672
Varsome	rs749780672
LitVar	rs749780672
Map	rs749780672
PheGenI	rs749780672
Biobank	rs749780672
1000 genomes	rs749780672
hgdp	rs749780672
ensembl	rs749780672
geneview	rs749780672
scholar	rs749780672
google	rs749780672
pharmgkb	rs749780672
gwascentral	rs749780672
openSNP	rs749780672
23andMe	rs749780672
SNPshot	rs749780672
SNPdbe	rs749780672
MSV3d	rs749780672
GWAS Ctlg	rs749780672

Max Magnitude

5

ClinVar
Risk	rs749780672(A;A)
Alt	rs749780672(A;A)
Reference	Rs749780672(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224102C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237931.1,