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rs2822432

From SNPedia

Orientationplus
Stabilizedplus
Make rs2822432(C;C)
Make rs2822432(C;T)
Make rs2822432(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position14144627
GeneLIPI
is asnp
is mentioned by
dbSNPrs2822432
ebirs2822432
HLIrs2822432
Exacrs2822432
Varsomers2822432
Maprs2822432
PheGenIrs2822432
hapmaprs2822432
1000 genomesrs2822432
hgdprs2822432
ensemblrs2822432
gopubmedrs2822432
geneviewrs2822432
scholarrs2822432
googlers2822432
pharmgkbrs2822432
gwascentralrs2822432
openSNPrs2822432
23andMers2822432
23andMe allrs2822432
SNP Nexus

SNPshotrs2822432
SNPdbers2822432
MSV3drs2822432
GWAS Ctlgrs2822432
GMAF0.3186
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene LIPI
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103643073626
Disease Association Defects in LIPI may be a cause of susceptibility to familial hypertrigliceridemia (MIM:145750). Familial hypertriglyceridemia is a common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.



Neighborrs7283442
Distance28


GET Evidence
LIPI-E452K
aa_change Glu452Lys
aa_change_short E452K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.403964
summary