rs138947766

Orientation

plus

Stabilized

plus

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

Make rs138947766(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11116883

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs138947766
dbSNP (classic)	rs138947766
ClinGen	rs138947766
ebi	rs138947766
HLI	rs138947766
Exac	rs138947766
Gnomad	rs138947766
Varsome	rs138947766
LitVar	rs138947766
Map	rs138947766
PheGenI	rs138947766
Biobank	rs138947766
1000 genomes	rs138947766
hgdp	rs138947766
ensembl	rs138947766
geneview	rs138947766
scholar	rs138947766
google	rs138947766
pharmgkb	rs138947766
gwascentral	rs138947766
openSNP	rs138947766
23andMe	rs138947766
SNPshot	rs138947766
SNPdbe	rs138947766
MSV3d	rs138947766
GWAS Ctlg	rs138947766

Max Magnitude

5

aka c.1730G>C, p.Trp577Ser, and W577S; in older literature, W556S; note also c.1730G>A, p.Trp577Ter and W577X, also pathogenic

ClinVar
Risk	rs138947766(A;A) rs138947766(C;C)
Alt	rs138947766(A;A) rs138947766(C;C)
Reference	Rs138947766(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227559G>A; NC_000019.9:g.11227559G>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000417240.1, RCV000238353.1,