rs730880131

Orientation

plus

Stabilized

plus

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

Make rs730880131(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

11111640

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs730880131
dbSNP (classic)	rs730880131
ClinGen	rs730880131
ebi	rs730880131
HLI	rs730880131
Exac	rs730880131
Gnomad	rs730880131
Varsome	rs730880131
LitVar	rs730880131
Map	rs730880131
PheGenI	rs730880131
Biobank	rs730880131
1000 genomes	rs730880131
hgdp	rs730880131
ensembl	rs730880131
geneview	rs730880131
scholar	rs730880131
google	rs730880131
pharmgkb	rs730880131
gwascentral	rs730880131
openSNP	rs730880131
23andMe	rs730880131
SNPshot	rs730880131
SNPdbe	rs730880131
MSV3d	rs730880131
GWAS Ctlg	rs730880131

Max Magnitude

5

ClinVar
Risk	rs730880131(A;A) rs730880131(T;T)
Alt	rs730880131(A;A) rs730880131(T;T)
Reference	Rs730880131(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11222316G>A; NC_000019.9:g.11222316G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237186.1, RCV000157291.1,