Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434440
rs121434440
GNPAT
0.800 GeneticVariation UNIPROT Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 21990100

2012
dbSNP: rs121434440
rs121434440
GNPAT
0.800 GeneticVariation UNIPROT Impaired membrane traffic in defective ether lipid biosynthesis. 11152660

2001
dbSNP: rs121434440
rs121434440
GNPAT
0.800 GeneticVariation UNIPROT Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. 9536089

1998
dbSNP: rs121434440
rs121434440
GNPAT
T 0.800 CausalMutation CLINVAR