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rs118204069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204069(C;C)
Make rs118204069(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951856
GeneLPL
is asnp
is mentioned by
dbSNPrs118204069
dbSNP (classic)rs118204069
ClinGenrs118204069
ebirs118204069
HLIrs118204069
Exacrs118204069
Gnomadrs118204069
Varsomers118204069
LitVarrs118204069
Maprs118204069
PheGenIrs118204069
Biobankrs118204069
1000 genomesrs118204069
hgdprs118204069
ensemblrs118204069
geneviewrs118204069
scholarrs118204069
googlers118204069
pharmgkbrs118204069
gwascentralrs118204069
openSNPrs118204069
23andMers118204069
SNPshotrs118204069
SNPdbers118204069
MSV3drs118204069
GWAS Ctlgrs118204069
Max Magnitude0
OMIM609708
Desc
Variant0021
Relatedalso
ClinVar
Risk rs118204069(C;C)
Alt rs118204069(C;C)
Reference Rs118204069(T;T)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809367T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001605.2,