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rs118204076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204076(C;G)
Make rs118204076(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954199
GeneLPL
is asnp
is mentioned by
dbSNPrs118204076
dbSNP (classic)rs118204076
ClinGenrs118204076
ebirs118204076
HLIrs118204076
Exacrs118204076
Gnomadrs118204076
Varsomers118204076
LitVarrs118204076
Maprs118204076
PheGenIrs118204076
Biobankrs118204076
1000 genomesrs118204076
hgdprs118204076
ensemblrs118204076
geneviewrs118204076
scholarrs118204076
googlers118204076
pharmgkbrs118204076
gwascentralrs118204076
openSNPrs118204076
23andMers118204076
SNPshotrs118204076
SNPdbers118204076
MSV3drs118204076
GWAS Ctlgrs118204076
Max Magnitude0
OMIM609708
Desc
Variant0030
Relatedalso
ClinVar
Risk rs118204076(G;G) rs118204076(T;T)
Alt rs118204076(G;G) rs118204076(T;T)
Reference Rs118204076(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811710C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001612.2,