rs730882078

Orientation

plus

Stabilized

plus

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

Make rs730882078(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11102714

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs730882078
dbSNP (classic)	rs730882078
ClinGen	rs730882078
ebi	rs730882078
HLI	rs730882078
Exac	rs730882078
Gnomad	rs730882078
Varsome	rs730882078
LitVar	rs730882078
Map	rs730882078
PheGenI	rs730882078
Biobank	rs730882078
1000 genomes	rs730882078
hgdp	rs730882078
ensembl	rs730882078
geneview	rs730882078
scholar	rs730882078
google	rs730882078
pharmgkb	rs730882078
gwascentral	rs730882078
openSNP	rs730882078
23andMe	rs730882078
SNPshot	rs730882078
SNPdbe	rs730882078
MSV3d	rs730882078
GWAS Ctlg	rs730882078

Max Magnitude

5

ClinVar
Risk	rs730882078(A;A) rs730882078(T;T)
Alt	rs730882078(A;A) rs730882078(T;T)
Reference	Rs730882078(C;C)
Significance	Other
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11213390C>A; NC_000019.9:g.11213390C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238313.1, RCV000161952.1, RCV000237918.2,