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rs118204070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204070(A;A)
Make rs118204070(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951791
GeneLPL
is asnp
is mentioned by
dbSNPrs118204070
dbSNP (classic)rs118204070
ClinGenrs118204070
ebirs118204070
HLIrs118204070
Exacrs118204070
Gnomadrs118204070
Varsomers118204070
LitVarrs118204070
Maprs118204070
PheGenIrs118204070
Biobankrs118204070
1000 genomesrs118204070
hgdprs118204070
ensemblrs118204070
geneviewrs118204070
scholarrs118204070
googlers118204070
pharmgkbrs118204070
gwascentralrs118204070
openSNPrs118204070
23andMers118204070
SNPshotrs118204070
SNPdbers118204070
MSV3drs118204070
GWAS Ctlgrs118204070
Max Magnitude0
OMIM609708
Desc
Variant0023
Relatedalso
ClinVar
Risk rs118204070(A;A)
Alt rs118204070(A;A)
Reference Rs118204070(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809302G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001606.3,