rs200143634

Orientation

plus

Stabilized

plus

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

Make rs200143634(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11113543

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs200143634
dbSNP (classic)	rs200143634
ClinGen	rs200143634
ebi	rs200143634
HLI	rs200143634
Exac	rs200143634
Gnomad	rs200143634
Varsome	rs200143634
LitVar	rs200143634
Map	rs200143634
PheGenI	rs200143634
Biobank	rs200143634
1000 genomes	rs200143634
hgdp	rs200143634
ensembl	rs200143634
geneview	rs200143634
scholar	rs200143634
google	rs200143634
pharmgkb	rs200143634
gwascentral	rs200143634
openSNP	rs200143634
23andMe	rs200143634
SNPshot	rs200143634
SNPdbe	rs200143634
MSV3d	rs200143634
GWAS Ctlg	rs200143634

Max Magnitude

5

ClinVar
Risk	rs200143634(A;A) rs200143634(C;C)
Alt	rs200143634(A;A) rs200143634(C;C)
Reference	Rs200143634(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224219T>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237859.1,