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rs118204074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204074(A;A)
Make rs118204074(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951819
GeneLPL
is asnp
is mentioned by
dbSNPrs118204074
dbSNP (classic)rs118204074
ClinGenrs118204074
ebirs118204074
HLIrs118204074
Exacrs118204074
Gnomadrs118204074
Varsomers118204074
LitVarrs118204074
Maprs118204074
PheGenIrs118204074
Biobankrs118204074
1000 genomesrs118204074
hgdprs118204074
ensemblrs118204074
geneviewrs118204074
scholarrs118204074
googlers118204074
pharmgkbrs118204074
gwascentralrs118204074
openSNPrs118204074
23andMers118204074
SNPshotrs118204074
SNPdbers118204074
MSV3drs118204074
GWAS Ctlgrs118204074
Max Magnitude0
OMIM609708
Desc
Variant0028
Relatedalso
ClinVar
Risk rs118204074(A;A) rs118204074(T;T)
Alt rs118204074(A;A) rs118204074(T;T)
Reference Rs118204074(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809330C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001595.2,