Have questions? Visit https://www.reddit.com/r/SNPedia

rs118204073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118204073(A;C)
Make rs118204073(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951825
GeneLPL
is asnp
is mentioned by
dbSNPrs118204073
dbSNP (classic)rs118204073
ClinGenrs118204073
ebirs118204073
HLIrs118204073
Exacrs118204073
Gnomadrs118204073
Varsomers118204073
LitVarrs118204073
Maprs118204073
PheGenIrs118204073
Biobankrs118204073
1000 genomesrs118204073
hgdprs118204073
ensemblrs118204073
geneviewrs118204073
scholarrs118204073
googlers118204073
pharmgkbrs118204073
gwascentralrs118204073
openSNPrs118204073
23andMers118204073
SNPshotrs118204073
SNPdbers118204073
MSV3drs118204073
GWAS Ctlgrs118204073
Max Magnitude0
OMIM609708
Desc
Variant0027
Relatedalso
ClinVar
Risk rs118204073(C;C)
Alt rs118204073(C;C)
Reference Rs118204073(A;A)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809336A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001610.2,