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rs118204062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204062(A;A)
Make rs118204062(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19955874
GeneLPL
is asnp
is mentioned by
dbSNPrs118204062
dbSNP (classic)rs118204062
ClinGenrs118204062
ebirs118204062
HLIrs118204062
Exacrs118204062
Gnomadrs118204062
Varsomers118204062
LitVarrs118204062
Maprs118204062
PheGenIrs118204062
Biobankrs118204062
1000 genomesrs118204062
hgdprs118204062
ensemblrs118204062
geneviewrs118204062
scholarrs118204062
googlers118204062
pharmgkbrs118204062
gwascentralrs118204062
openSNPrs118204062
23andMers118204062
SNPshotrs118204062
SNPdbers118204062
MSV3drs118204062
GWAS Ctlgrs118204062
Max Magnitude0
OMIM609708
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118204062(A;A)
Alt rs118204062(A;A)
Reference Rs118204062(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19813385G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001594.2,