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rs118204078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204078(C;G)
Make rs118204078(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19960935
GeneLPL
is asnp
is mentioned by
dbSNPrs118204078
dbSNP (classic)rs118204078
ClinGenrs118204078
ebirs118204078
HLIrs118204078
Exacrs118204078
Gnomadrs118204078
Varsomers118204078
LitVarrs118204078
Maprs118204078
PheGenIrs118204078
Biobankrs118204078
1000 genomesrs118204078
hgdprs118204078
ensemblrs118204078
geneviewrs118204078
scholarrs118204078
googlers118204078
pharmgkbrs118204078
gwascentralrs118204078
openSNPrs118204078
23andMers118204078
SNPshotrs118204078
SNPdbers118204078
MSV3drs118204078
GWAS Ctlgrs118204078
Max Magnitude0
OMIM609708
Desc
Variant0034
Relatedalso
ClinVar
Risk rs118204078(G;G)
Alt rs118204078(G;G)
Reference Rs118204078(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19818446C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001616.2,