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rs7283442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs7283442(A;T)
Make rs7283442(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position14144655
GeneLIPI
is asnp
is mentioned by
dbSNPrs7283442
ebirs7283442
HLIrs7283442
Exacrs7283442
Varsomers7283442
Maprs7283442
PheGenIrs7283442
hapmaprs7283442
1000 genomesrs7283442
hgdprs7283442
ensemblrs7283442
gopubmedrs7283442
geneviewrs7283442
scholarrs7283442
googlers7283442
pharmgkbrs7283442
gwascentralrs7283442
openSNPrs7283442
23andMers7283442
23andMe allrs7283442
SNP Nexus

SNPshotrs7283442
SNPdbers7283442
MSV3drs7283442
GWAS Ctlgrs7283442
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene LIPI
allele A
frequency
sift
HuRef 1103643073627
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.



Neighborrs2822432
Distance28


GET Evidence
LIPI-R442S
aa_change Arg442Ser
aa_change_short R442S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary