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rs118204072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204072(C;G)
Make rs118204072(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954174
GeneLPL
is asnp
is mentioned by
dbSNPrs118204072
dbSNP (classic)rs118204072
ClinGenrs118204072
ebirs118204072
HLIrs118204072
Exacrs118204072
Gnomadrs118204072
Varsomers118204072
LitVarrs118204072
Maprs118204072
PheGenIrs118204072
Biobankrs118204072
1000 genomesrs118204072
hgdprs118204072
ensemblrs118204072
geneviewrs118204072
scholarrs118204072
googlers118204072
pharmgkbrs118204072
gwascentralrs118204072
openSNPrs118204072
23andMers118204072
SNPshotrs118204072
SNPdbers118204072
MSV3drs118204072
GWAS Ctlgrs118204072
Max Magnitude0
OMIM609708
Desc
Variant0026
Relatedalso
ClinVar
Risk rs118204072(G;G) rs118204072(T;T)
Alt rs118204072(G;G) rs118204072(T;T)
Reference Rs118204072(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811685C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001609.2,