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rs118204080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204080(C;C)
Make rs118204080(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954333
GeneLPL
is asnp
is mentioned by
dbSNPrs118204080
dbSNP (classic)rs118204080
ClinGenrs118204080
ebirs118204080
HLIrs118204080
Exacrs118204080
Gnomadrs118204080
Varsomers118204080
LitVarrs118204080
Maprs118204080
PheGenIrs118204080
Biobankrs118204080
1000 genomesrs118204080
hgdprs118204080
ensemblrs118204080
geneviewrs118204080
scholarrs118204080
googlers118204080
pharmgkbrs118204080
gwascentralrs118204080
openSNPrs118204080
23andMers118204080
SNPshotrs118204080
SNPdbers118204080
MSV3drs118204080
GWAS Ctlgrs118204080
Max Magnitude0
OMIM609708
Desc
Variant0037
Relatedalso
ClinVar
Risk rs118204080(C;C)
Alt rs118204080(C;C)
Reference Rs118204080(T;T)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811844T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001619.2,