rs140241383

Orientation

plus

Stabilized

plus

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

Make rs140241383(C;T)

Make rs140241383(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11107432

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs140241383
dbSNP (classic)	rs140241383
ClinGen	rs140241383
ebi	rs140241383
HLI	rs140241383
Exac	rs140241383
Gnomad	rs140241383
Varsome	rs140241383
LitVar	rs140241383
Map	rs140241383
PheGenI	rs140241383
Biobank	rs140241383
1000 genomes	rs140241383
hgdp	rs140241383
ensembl	rs140241383
geneview	rs140241383
scholar	rs140241383
google	rs140241383
pharmgkb	rs140241383
gwascentral	rs140241383
openSNP	rs140241383
23andMe	rs140241383
SNPshot	rs140241383
SNPdbe	rs140241383
MSV3d	rs140241383
GWAS Ctlg	rs140241383

Max Magnitude

5

ClinVar
Risk	rs140241383(A;A) rs140241383(T;T)
Alt	rs140241383(A;A) rs140241383(T;T)
Reference	Rs140241383(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218108C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237148.3,