rs1057516132

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TTTCG)	5	Familial Hypercholesterolemia
(GTTTC;GTTTC)	0	common in clinvar
(TTTCG;TTTCG)	0	common/normal

Make rs1057516132(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11105246

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516132
dbSNP (classic)	rs1057516132
ClinGen	rs1057516132
ebi	rs1057516132
HLI	rs1057516132
Exac	rs1057516132
Gnomad	rs1057516132
Varsome	rs1057516132
LitVar	rs1057516132
Map	rs1057516132
PheGenI	rs1057516132
Biobank	rs1057516132
1000 genomes	rs1057516132
hgdp	rs1057516132
ensembl	rs1057516132
geneview	rs1057516132
scholar	rs1057516132
google	rs1057516132
pharmgkb	rs1057516132
gwascentral	rs1057516132
openSNP	rs1057516132
23andMe	rs1057516132
SNPshot	rs1057516132
SNPdbe	rs1057516132
MSV3d	rs1057516132
GWAS Ctlg	rs1057516132

Max Magnitude

5

ClinVar
Risk	rs1057516132(-;-)
Alt	rs1057516132(-;-)
Reference	Rs1057516132(GTTTC;GTTTC)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215922_11215926delTTTCG
CLNSRC
CLNACC	RCV000408757.1,