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rs118204071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204071(A;A)
Make rs118204071(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19959322
GeneLPL
is asnp
is mentioned by
dbSNPrs118204071
dbSNP (classic)rs118204071
ClinGenrs118204071
ebirs118204071
HLIrs118204071
Exacrs118204071
Gnomadrs118204071
Varsomers118204071
LitVarrs118204071
Maprs118204071
PheGenIrs118204071
Biobankrs118204071
1000 genomesrs118204071
hgdprs118204071
ensemblrs118204071
geneviewrs118204071
scholarrs118204071
googlers118204071
pharmgkbrs118204071
gwascentralrs118204071
openSNPrs118204071
23andMers118204071
SNPshotrs118204071
SNPdbers118204071
MSV3drs118204071
GWAS Ctlgrs118204071
Max Magnitude0
OMIM609708
Desc
Variant0025
Relatedalso
ClinVar
Risk rs118204071(A;A)
Alt rs118204071(A;A)
Reference Rs118204071(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19816833G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001608.2,