rs118204060

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

19954279

Gene

LPL

is a	snp
is	mentioned by
dbSNP	rs118204060
dbSNP (classic)	rs118204060
ClinGen	rs118204060
ebi	rs118204060
HLI	rs118204060
Exac	rs118204060
Gnomad	rs118204060
Varsome	rs118204060
LitVar	rs118204060
Map	rs118204060
PheGenI	rs118204060
Biobank	rs118204060
1000 genomes	rs118204060
hgdp	rs118204060
ensembl	rs118204060
geneview	rs118204060
scholar	rs118204060
google	rs118204060
pharmgkb	rs118204060
gwascentral	rs118204060
openSNP	rs118204060
23andMe	rs118204060
SNPshot	rs118204060
SNPdbe	rs118204060
MSV3d	rs118204060
GWAS Ctlg	rs118204060

Max Magnitude

4

OMIM	609708
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs118204060(T;T)
Alt	Rs118204060(T;T)
Reference	Rs118204060(C;C)
Significance	Pathogenic
Disease	Hyperlipoproteinemia
Variation	info
Gene	LPL
CLNDBN	Hyperlipoproteinemia, type I
Reversed	0
HGVS	NC_000008.10:g.19811790C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001591.3,