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rs7278737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 0
Make rs7278737(G;G)
Make rs7278737(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position14109044
GeneLIPI
is asnp
is mentioned by
dbSNPrs7278737
ebirs7278737
HLIrs7278737
Exacrs7278737
Varsomers7278737
Maprs7278737
PheGenIrs7278737
hapmaprs7278737
1000 genomesrs7278737
hgdprs7278737
ensemblrs7278737
gopubmedrs7278737
geneviewrs7278737
scholarrs7278737
googlers7278737
pharmgkbrs7278737
gwascentralrs7278737
openSNPrs7278737
23andMers7278737
23andMe allrs7278737
SNP Nexus

SNPshotrs7278737
SNPdbers7278737
MSV3drs7278737
GWAS Ctlgrs7278737
GMAF0.4959
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene LIPI
allele T
frequency 0.492
sift TOLERATED
HuRef 1103643073582
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.



GET Evidence
LIPI-D465E
aa_change Asp465Glu
aa_change_short D465E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.500093
summary