rs1060499931

Orientation

plus

Stabilized

plus

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

Make rs1060499931(A;A)

Chromosome

19

Position

11105416

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1060499931
dbSNP (classic)	rs1060499931
ClinGen	rs1060499931
ebi	rs1060499931
HLI	rs1060499931
Exac	rs1060499931
Gnomad	rs1060499931
Varsome	rs1060499931
LitVar	rs1060499931
Map	rs1060499931
PheGenI	rs1060499931
Biobank	rs1060499931
1000 genomes	rs1060499931
hgdp	rs1060499931
ensembl	rs1060499931
geneview	rs1060499931
scholar	rs1060499931
google	rs1060499931
pharmgkb	rs1060499931
gwascentral	rs1060499931
openSNP	rs1060499931
23andMe	rs1060499931
SNPshot	rs1060499931
SNPdbe	rs1060499931
MSV3d	rs1060499931
GWAS Ctlg	rs1060499931

Max Magnitude

5

aka c.510C>A (p.Asp170Glu)

ClinVar
Risk	rs1060499931(A;A)
Alt	rs1060499931(A;A)
Reference	Rs1060499931(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216092C>A
CLNSRC
CLNACC	RCV000455904.1,