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rs118204079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204079(A;A)
Make rs118204079(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19962126
GeneLPL
is asnp
is mentioned by
dbSNPrs118204079
dbSNP (classic)rs118204079
ClinGenrs118204079
ebirs118204079
HLIrs118204079
Exacrs118204079
Gnomadrs118204079
Varsomers118204079
LitVarrs118204079
Maprs118204079
PheGenIrs118204079
Biobankrs118204079
1000 genomesrs118204079
hgdprs118204079
ensemblrs118204079
geneviewrs118204079
scholarrs118204079
googlers118204079
pharmgkbrs118204079
gwascentralrs118204079
openSNPrs118204079
23andMers118204079
SNPshotrs118204079
SNPdbers118204079
MSV3drs118204079
GWAS Ctlgrs118204079
Max Magnitude0
OMIM609708
Desc
Variant0036
Relatedalso
ClinVar
Risk rs118204079(A;A)
Alt rs118204079(A;A)
Reference Rs118204079(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19819637G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001618.2,