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rs118204077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204077(C;T)
Make rs118204077(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19955873
GeneLPL
is asnp
is mentioned by
dbSNPrs118204077
dbSNP (classic)rs118204077
ClinGenrs118204077
ebirs118204077
HLIrs118204077
Exacrs118204077
Gnomadrs118204077
Varsomers118204077
LitVarrs118204077
Maprs118204077
PheGenIrs118204077
Biobankrs118204077
1000 genomesrs118204077
hgdprs118204077
ensemblrs118204077
geneviewrs118204077
scholarrs118204077
googlers118204077
pharmgkbrs118204077
gwascentralrs118204077
openSNPrs118204077
23andMers118204077
SNPshotrs118204077
SNPdbers118204077
MSV3drs118204077
GWAS Ctlgrs118204077
Max Magnitude0
OMIM609708
Desc
Variant0031
Relatedalso
ClinVar
Risk rs118204077(T;T)
Alt rs118204077(T;T)
Reference Rs118204077(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19813384C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001613.2,