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rs118204065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204065(A;A)
Make rs118204065(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951783
GeneLPL
is asnp
is mentioned by
dbSNPrs118204065
dbSNP (classic)rs118204065
ClinGenrs118204065
ebirs118204065
HLIrs118204065
Exacrs118204065
Gnomadrs118204065
Varsomers118204065
LitVarrs118204065
Maprs118204065
PheGenIrs118204065
Biobankrs118204065
1000 genomesrs118204065
hgdprs118204065
ensemblrs118204065
geneviewrs118204065
scholarrs118204065
googlers118204065
pharmgkbrs118204065
gwascentralrs118204065
openSNPrs118204065
23andMers118204065
SNPshotrs118204065
SNPdbers118204065
MSV3drs118204065
GWAS Ctlgrs118204065
Max Magnitude0
OMIM609708
Desc
Variant0016
Relatedalso
ClinVar
Risk rs118204065(A;A)
Alt rs118204065(A;A)
Reference Rs118204065(T;T)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809294T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001600.2,