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rs118204081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204081(A;A)
Make rs118204081(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position19956052
GeneLPL
is asnp
is mentioned by
dbSNPrs118204081
dbSNP (classic)rs118204081
ClinGenrs118204081
ebirs118204081
HLIrs118204081
Exacrs118204081
Gnomadrs118204081
Varsomers118204081
LitVarrs118204081
Maprs118204081
PheGenIrs118204081
Biobankrs118204081
1000 genomesrs118204081
hgdprs118204081
ensemblrs118204081
geneviewrs118204081
scholarrs118204081
googlers118204081
pharmgkbrs118204081
gwascentralrs118204081
openSNPrs118204081
23andMers118204081
SNPshotrs118204081
SNPdbers118204081
MSV3drs118204081
GWAS Ctlgrs118204081
Max Magnitude0
OMIM609708
Desc
Variant0039
Relatedalso
ClinVar
Risk rs118204081(A;A)
Alt rs118204081(A;A)
Reference Rs118204081(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia LIPOPROTEIN LIPASE (OLBIA)
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I LIPOPROTEIN LIPASE (OLBIA)
Reversed 0
HGVS NC_000008.10:g.19813563C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001621.2, RCV000001622.2,