rs875989907

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(G;G)	0	common/normal
(G;T)	5	Familial Hypercholesterolemia

Make rs875989907(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11106666

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs875989907
dbSNP (classic)	rs875989907
ClinGen	rs875989907
ebi	rs875989907
HLI	rs875989907
Exac	rs875989907
Gnomad	rs875989907
Varsome	rs875989907
LitVar	rs875989907
Map	rs875989907
PheGenI	rs875989907
Biobank	rs875989907
1000 genomes	rs875989907
hgdp	rs875989907
ensembl	rs875989907
geneview	rs875989907
scholar	rs875989907
google	rs875989907
pharmgkb	rs875989907
gwascentral	rs875989907
openSNP	rs875989907
23andMe	rs875989907
SNPshot	rs875989907
SNPdbe	rs875989907
MSV3d	rs875989907
GWAS Ctlg	rs875989907

Max Magnitude

5

aka c.796G>A (p.Asp266Asn or D266N) and also c.796G>T (p.Asp266Tyr or D266Y), both of which are considered likely to be pathogenic for familial hypercholesterolemia in ClinVar

ClinVar
Risk	rs875989907(A;A) rs875989907(T;T)
Alt	rs875989907(A;A) rs875989907(T;T)
Reference	Rs875989907(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217342G>A; NC_000019.9:g.11217342G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000211615.3, RCV000237807.1,