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rs118204060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Carrier for Hyperlipoproteinemia, type I
(T;T) 4 Hyperlipoproteinemia, type I
ReferenceGRCh38 38.1/141
Chromosome8
Position19954279
GeneLPL
is asnp
is mentioned by
dbSNPrs118204060
ebirs118204060
HLIrs118204060
Exacrs118204060
Varsomers118204060
Maprs118204060
PheGenIrs118204060
hapmaprs118204060
1000 genomesrs118204060
hgdprs118204060
ensemblrs118204060
gopubmedrs118204060
geneviewrs118204060
scholarrs118204060
googlers118204060
pharmgkbrs118204060
gwascentralrs118204060
openSNPrs118204060
23andMers118204060
23andMe allrs118204060
SNP Nexus

SNPshotrs118204060
SNPdbers118204060
MSV3drs118204060
GWAS Ctlgrs118204060
Max Magnitude4
OMIM609708
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204060(T;T)
Alt rs118204060(T;T)
Reference rs118204060(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811790C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001591.3,