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rs118204075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118204075(A;A)
Make rs118204075(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19954243
GeneLPL
is asnp
is mentioned by
dbSNPrs118204075
dbSNP (classic)rs118204075
ClinGenrs118204075
ebirs118204075
HLIrs118204075
Exacrs118204075
Gnomadrs118204075
Varsomers118204075
LitVarrs118204075
Maprs118204075
PheGenIrs118204075
Biobankrs118204075
1000 genomesrs118204075
hgdprs118204075
ensemblrs118204075
geneviewrs118204075
scholarrs118204075
googlers118204075
pharmgkbrs118204075
gwascentralrs118204075
openSNPrs118204075
23andMers118204075
SNPshotrs118204075
SNPdbers118204075
MSV3drs118204075
GWAS Ctlgrs118204075
Max Magnitude0
OMIM609708
Desc
Variant0029
Relatedalso
ClinVar
Risk rs118204075(A;A)
Alt rs118204075(A;A)
Reference Rs118204075(G;G)
Significance Pathogenic
Disease Hyperlipoproteinemia
Variation info
Gene LPL
CLNDBN Hyperlipoproteinemia, type I
Reversed 0
HGVS NC_000008.10:g.19811754G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001611.2,