rs754676104

Orientation

plus

Stabilized

plus

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

Make rs754676104(C;T)

Make rs754676104(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11100293

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs754676104
dbSNP (classic)	rs754676104
ClinGen	rs754676104
ebi	rs754676104
HLI	rs754676104
Exac	rs754676104
Gnomad	rs754676104
Varsome	rs754676104
LitVar	rs754676104
Map	rs754676104
PheGenI	rs754676104
Biobank	rs754676104
1000 genomes	rs754676104
hgdp	rs754676104
ensembl	rs754676104
geneview	rs754676104
scholar	rs754676104
google	rs754676104
pharmgkb	rs754676104
gwascentral	rs754676104
openSNP	rs754676104
23andMe	rs754676104
SNPshot	rs754676104
SNPdbe	rs754676104
MSV3d	rs754676104
GWAS Ctlg	rs754676104

Max Magnitude

5

ClinVar
Risk	rs754676104(A;A) rs754676104(T;T)
Alt	rs754676104(A;A) rs754676104(T;T)
Reference	Rs754676104(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11210969C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237307.1,