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rs118204063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204063(A;A)
Make rs118204063(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19953386
GeneLPL
is asnp
is mentioned by
dbSNPrs118204063
dbSNP (classic)rs118204063
ClinGenrs118204063
ebirs118204063
HLIrs118204063
Exacrs118204063
Gnomadrs118204063
Varsomers118204063
LitVarrs118204063
Maprs118204063
PheGenIrs118204063
Biobankrs118204063
1000 genomesrs118204063
hgdprs118204063
ensemblrs118204063
geneviewrs118204063
scholarrs118204063
googlers118204063
pharmgkbrs118204063
gwascentralrs118204063
openSNPrs118204063
23andMers118204063
SNPshotrs118204063
SNPdbers118204063
MSV3drs118204063
GWAS Ctlgrs118204063
Max Magnitude0
OMIM609708
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118204063(A;A)
Alt rs118204063(A;A)
Reference Rs118204063(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19810897G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001596.2,