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rs118204082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204082(C;G)
Make rs118204082(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19955863
GeneLPL
is asnp
is mentioned by
dbSNPrs118204082
dbSNP (classic)rs118204082
ClinGenrs118204082
ebirs118204082
HLIrs118204082
Exacrs118204082
Gnomadrs118204082
Varsomers118204082
LitVarrs118204082
Maprs118204082
PheGenIrs118204082
Biobankrs118204082
1000 genomesrs118204082
hgdprs118204082
ensemblrs118204082
geneviewrs118204082
scholarrs118204082
googlers118204082
pharmgkbrs118204082
gwascentralrs118204082
openSNPrs118204082
23andMers118204082
SNPshotrs118204082
SNPdbers118204082
MSV3drs118204082
GWAS Ctlgrs118204082
Max Magnitude0
OMIM609708
Desc
Variant0040
Relatedalso
ClinVar
Risk rs118204082(G;G) rs118204082(T;T)
Alt rs118204082(G;G) rs118204082(T;T)
Reference Rs118204082(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19813374C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001623.2,