rs761765254

Orientation

plus

Stabilized

plus

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

Make rs761765254(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11107506

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs761765254
dbSNP (classic)	rs761765254
ClinGen	rs761765254
ebi	rs761765254
HLI	rs761765254
Exac	rs761765254
Gnomad	rs761765254
Varsome	rs761765254
LitVar	rs761765254
Map	rs761765254
PheGenI	rs761765254
Biobank	rs761765254
1000 genomes	rs761765254
hgdp	rs761765254
ensembl	rs761765254
geneview	rs761765254
scholar	rs761765254
google	rs761765254
pharmgkb	rs761765254
gwascentral	rs761765254
openSNP	rs761765254
23andMe	rs761765254
SNPshot	rs761765254
SNPdbe	rs761765254
MSV3d	rs761765254
GWAS Ctlg	rs761765254

Max Magnitude

5

ClinVar
Risk	rs761765254(C;C) rs761765254(G;G)
Alt	rs761765254(C;C) rs761765254(G;G)
Reference	Rs761765254(A;A)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218182A>C; NC_000019.9:g.11218182A>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237873.1, RCV000238436.1,