rs193922569

Orientation

plus

Stabilized

plus

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

Make rs193922569(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11120224

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs193922569
dbSNP (classic)	rs193922569
ClinGen	rs193922569
ebi	rs193922569
HLI	rs193922569
Exac	rs193922569
Gnomad	rs193922569
Varsome	rs193922569
LitVar	rs193922569
Map	rs193922569
PheGenI	rs193922569
Biobank	rs193922569
1000 genomes	rs193922569
hgdp	rs193922569
ensembl	rs193922569
geneview	rs193922569
scholar	rs193922569
google	rs193922569
pharmgkb	rs193922569
gwascentral	rs193922569
openSNP	rs193922569
23andMe	rs193922569
SNPshot	rs193922569
SNPdbe	rs193922569
MSV3d	rs193922569
GWAS Ctlg	rs193922569

Max Magnitude

5

ClinVar
Risk	rs193922569(A;A) rs193922569(T;T)
Alt	rs193922569(A;A) rs193922569(T;T)
Reference	Rs193922569(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230900C>A; NC_000019.9:g.11230900C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238331.1, RCV000030130.1,