rs139400379

Orientation

plus

Stabilized

plus

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

Make rs139400379(C;T)

Make rs139400379(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11102758

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs139400379
dbSNP (classic)	rs139400379
ClinGen	rs139400379
ebi	rs139400379
HLI	rs139400379
Exac	rs139400379
Gnomad	rs139400379
Varsome	rs139400379
LitVar	rs139400379
Map	rs139400379
PheGenI	rs139400379
Biobank	rs139400379
1000 genomes	rs139400379
hgdp	rs139400379
ensembl	rs139400379
geneview	rs139400379
scholar	rs139400379
google	rs139400379
pharmgkb	rs139400379
gwascentral	rs139400379
openSNP	rs139400379
23andMe	rs139400379
SNPshot	rs139400379
SNPdbe	rs139400379
MSV3d	rs139400379
GWAS Ctlg	rs139400379

Max Magnitude

5

ClinVar
Risk	rs139400379(A;A) rs139400379(T;T)
Alt	rs139400379(A;A) rs139400379(T;T)
Reference	Rs139400379(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213434C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238158.1,