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rs118204061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204061(C;C)
Make rs118204061(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954240
GeneLPL
is asnp
is mentioned by
dbSNPrs118204061
dbSNP (classic)rs118204061
ClinGenrs118204061
ebirs118204061
HLIrs118204061
Exacrs118204061
Gnomadrs118204061
Varsomers118204061
LitVarrs118204061
Maprs118204061
PheGenIrs118204061
Biobankrs118204061
1000 genomesrs118204061
hgdprs118204061
ensemblrs118204061
geneviewrs118204061
scholarrs118204061
googlers118204061
pharmgkbrs118204061
gwascentralrs118204061
openSNPrs118204061
23andMers118204061
SNPshotrs118204061
SNPdbers118204061
MSV3drs118204061
GWAS Ctlgrs118204061
Max Magnitude0
OMIM609708
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118204061(C;C)
Alt rs118204061(C;C)
Reference Rs118204061(T;T)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811751T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001593.3,