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rs118204056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204056(A;A)
Make rs118204056(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954185
GeneLPL
is asnp
is mentioned by
dbSNPrs118204056
dbSNP (classic)rs118204056
ClinGenrs118204056
ebirs118204056
HLIrs118204056
Exacrs118204056
Gnomadrs118204056
Varsomers118204056
LitVarrs118204056
Maprs118204056
PheGenIrs118204056
Biobankrs118204056
1000 genomesrs118204056
hgdprs118204056
ensemblrs118204056
geneviewrs118204056
scholarrs118204056
googlers118204056
pharmgkbrs118204056
gwascentralrs118204056
openSNPrs118204056
23andMers118204056
SNPshotrs118204056
SNPdbers118204056
MSV3drs118204056
GWAS Ctlgrs118204056
Max Magnitude0
OMIM609708
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204056(A;A)
Alt rs118204056(A;A)
Reference Rs118204056(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811696G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001583.2,