rs118204057

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

19954222

Gene

LPL

is a	snp
is	mentioned by
dbSNP	rs118204057
dbSNP (classic)	rs118204057
ClinGen	rs118204057
ebi	rs118204057
HLI	rs118204057
Exac	rs118204057
Gnomad	rs118204057
Varsome	rs118204057
LitVar	rs118204057
Map	rs118204057
PheGenI	rs118204057
Biobank	rs118204057
1000 genomes	rs118204057
hgdp	rs118204057
ensembl	rs118204057
geneview	rs118204057
scholar	rs118204057
google	rs118204057
pharmgkb	rs118204057
gwascentral	rs118204057
openSNP	rs118204057
23andMe	rs118204057
SNPshot	rs118204057
SNPdbe	rs118204057
MSV3d	rs118204057
GWAS Ctlg	rs118204057

Max Magnitude

4

OMIM	609708
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs118204057(A;A)
Alt	Rs118204057(A;A)
Reference	Rs118204057(G;G)
Significance	Pathogenic
Disease	Hyperlipoproteinemia
Variation	info
Gene	LPL
CLNDBN	Hyperlipoproteinemia, type I
Reversed	0
HGVS	NC_000008.10:g.19811733G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001586.3,