rs118204059

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	4	Hyperlipoproteinemia, type I
(A;T)	2	Carrier for Hyperlipoproteinemia, type I
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

8

Position

19955876

Gene

LPL

is a	snp
is	mentioned by
dbSNP	rs118204059
dbSNP (classic)	rs118204059
ClinGen	rs118204059
ebi	rs118204059
HLI	rs118204059
Exac	rs118204059
Gnomad	rs118204059
Varsome	rs118204059
LitVar	rs118204059
Map	rs118204059
PheGenI	rs118204059
Biobank	rs118204059
1000 genomes	rs118204059
hgdp	rs118204059
ensembl	rs118204059
geneview	rs118204059
scholar	rs118204059
google	rs118204059
pharmgkb	rs118204059
gwascentral	rs118204059
openSNP	rs118204059
23andMe	rs118204059
SNPshot	rs118204059
SNPdbe	rs118204059
MSV3d	rs118204059
GWAS Ctlg	rs118204059

Max Magnitude

4

OMIM	609708
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs118204059(A;A)
Alt	Rs118204059(A;A)
Reference	Rs118204059(T;T)
Significance	Pathogenic
Disease	Hyperlipoproteinemia
Variation	info
Gene	LPL
CLNDBN	Hyperlipoproteinemia, type I
Reversed	0
HGVS	NC_000008.10:g.19813387T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001589.3,