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rs118204058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204058(C;T)
Make rs118204058(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position19951916
GeneLPL
is asnp
is mentioned by
dbSNPrs118204058
ebirs118204058
HLIrs118204058
Exacrs118204058
Varsomers118204058
Maprs118204058
PheGenIrs118204058
hapmaprs118204058
1000 genomesrs118204058
hgdprs118204058
ensemblrs118204058
gopubmedrs118204058
geneviewrs118204058
scholarrs118204058
googlers118204058
pharmgkbrs118204058
gwascentralrs118204058
openSNPrs118204058
23andMers118204058
23andMe allrs118204058
SNP Nexus

SNPshotrs118204058
SNPdbers118204058
MSV3drs118204058
GWAS Ctlgrs118204058
Max Magnitude0
OMIM609708
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118204058(T;T)
Alt rs118204058(T;T)
Reference rs118204058(C;C)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19809427C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001588.2,