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rs118204067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204067(C;G)
Make rs118204067(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954271
GeneLPL
is asnp
is mentioned by
dbSNPrs118204067
dbSNP (classic)rs118204067
ClinGenrs118204067
ebirs118204067
HLIrs118204067
Exacrs118204067
Gnomadrs118204067
Varsomers118204067
LitVarrs118204067
Maprs118204067
PheGenIrs118204067
Biobankrs118204067
1000 genomesrs118204067
hgdprs118204067
ensemblrs118204067
geneviewrs118204067
scholarrs118204067
googlers118204067
pharmgkbrs118204067
gwascentralrs118204067
openSNPrs118204067
23andMers118204067
SNPshotrs118204067
SNPdbers118204067
MSV3drs118204067
GWAS Ctlgrs118204067
Max Magnitude0
OMIM609708
Desc
Variant0018
Relatedalso
ClinVar
Risk rs118204067(G;G)
Alt rs118204067(G;G)
Reference Rs118204067(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811782C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001592.2,