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rs118204068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204068(A;A)
Make rs118204068(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19955894
GeneLPL
is asnp
is mentioned by
dbSNPrs118204068
dbSNP (classic)rs118204068
ClinGenrs118204068
ebirs118204068
HLIrs118204068
Exacrs118204068
Gnomadrs118204068
Varsomers118204068
LitVarrs118204068
Maprs118204068
PheGenIrs118204068
Biobankrs118204068
1000 genomesrs118204068
hgdprs118204068
ensemblrs118204068
geneviewrs118204068
scholarrs118204068
googlers118204068
pharmgkbrs118204068
gwascentralrs118204068
openSNPrs118204068
23andMers118204068
SNPshotrs118204068
SNPdbers118204068
MSV3drs118204068
GWAS Ctlgrs118204068
Max Magnitude0
OMIM609708
Desc
Variant0020
Relatedalso
ClinVar
Risk rs118204068(A;A)
Alt rs118204068(A;A)
Reference Rs118204068(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19813405G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001604.3,